# DELETIONS

AUTHOR:
Hobbs et al. 1987; Leitersdorf et al. 1990; Fumeron et al. 1992; Moorjani et al. 1993; Betard et al. 1992;  Sun et al. 1994; Roy et al. 1995; Vohl et al. 1997

REFERENCE:
Hum Mut 1:445; J Clin Invest 85;1014; N Engl J Med 326;69; Arterioscler Thromb Vasc Biol 14:85; Clin Genet 52:1


AUTHOR:
Hobbs et al. 1988 & 1992; Sun et al. 1994

REFERENCE:
J Clin Invest 81:909; Hum Mutat 1:445; Arterioscler Thromb Vasc Biol 14:85


AUTHOR:
Top et al. 1990; Lelli et al.1991; Sun et al.1992; Hobbs et al. 1992

REFERENCE:
Atheroscler 83:127; Arterioscler Thromb 11:234; Arterioscler Thromb 12:762; Hum Mut 1:445


AUTHOR:
Kajinami et al. 1991; Hobbs et al. 1992; Kigawa et al. 1993

REFERENCE:
Circulation SII:278; Hum Mutat 1:445; J Biochem 113:372


AUTHOR:
Kajinami et al. 1990; Mabuchi et al. 1990; Kigawa et al.  1992; Hobbs etal. 1992

REFERENCE:
J Intern Med 227:247; Ann NY Acad Sci 598:393; Hum Mut 1;445


AUTHOR:
Ma et al. 1989; Leitersdorf et al. 1990; Hobbs et al. 1992; Sass et al. 1995

REFERENCE:
Clin Genet 36:219; J Clin Invest 85:1014; Hum Mutat 1:445; J Biol Chem 270:25166


AUTHOR:
Yamakawa et al. 1989; Hobbs et al. 1992.


BKPTS:
Alu element of intron 1 in intron 8 sequence.  Crossover somewhere between -123 and -168


AUTHOR:
Langlois et al. 1988; Hobbs et al. 1992; Sun et al. 1992; Webb et al. 1996

REFERENCE:
Am J Hum Genet 43:60; Hum Mutat 1:445; Arterioscler Thromb 12:762; J Lipid Res37:368


AUTHOR:
Henderson et al. 1988; Hobbs et al. 1990 & 1992.

REFERENCE:
Hum Genet 80:371; Ann Rev Genet 24:133; Hum Mutatt 1:445


AUTHOR:
Langlois et al. 1988; Hobbs et al. 1992;  Defesche et al.; Lombardi et al. 1998

REFERENCE:
Am J Hum Genet 43:60; Hum Mutat 1:445; Chapter 5; EAS pg18


AUTHOR:
Bertolini et al. 1992; Bertolini et al. 1995


AUTHOR:
Langlois et al. 1988; Hobbs et al. 1992; Defesche et al.; Lombardi et al. 1997

REFERENCE:
Am J Hum Genet 43:60; Hum Mutat 1:445; Clin Gneet 51:286


AUTHOR:
Bertolini et al. 1997; Patel et al. 1998


AUTHOR:
Hobbs et al. 1990 & 1992; Sun et al. 1994

REFERENCE:
J Biol Chem 261:13114; Hum Mutat 1:445; Chapter 5;  Arterioscler Thromb Vasc Biol 14:85


AUTHOR:
Horsthemke et al. 1987; Hobbs et al. 1992; Sun et al. 1992, 1997 & 1998

REFERENCE:
J Med Genet 24:144; Hum Mutat 1:445; Arterioscler Thromb Vasc Biol 12:762 & 17:3092; Atheroscler 136:175


REFERENCE:
Eur J Biochem 198:107; Clin Genet 39:451; Hum Mutat 1:445


BKPTS:
In a 28bp region. 5'In4+ 573 and 3' In5+ 530bp


AUTHOR:
Kontula et al. 1992; Aalto-Setala et al. 1992; Hobbs et al. 1992

REFERENCE:
Ann Med 24:363; J Intern Med 231:227; Hum Mutat 1:445


RECEPTOR PROTEIN:
Del e7-14 Del repeat A, B, EGFspacer, repeat C

AUTHOR:
Miyake et al. 1989;  Kajinami et al. 1990 ; Sun et al. 1992; Hobbs et al. 1992

REFERENCE:
JBC 264:16584; J Intern Med 227:247; Arterioscler Thromb 12:762; Hum Mut 1:445


REFERENCE:
Arterioscler Thromb 12:762; Hum Mutat 1:445


AUTHOR:
Russell et al. 1987; Top et al. 1990; Hobbs et al. 1992; Peeters et al. 1997

REFERENCE:
Cold Spring Harbour Symp Quart Biol 51:811; Atheroscler 83:127; Hum Mutat 1:445; Hum Genet 96:401


AUTHOR:
Henderson et al. 1987; van der Westhuyzen et al. 1991; Hobbs et al. 1992; Sun et al.1992; Defesche et al.

REFERENCE:
Hum Genet 80:371; Biochem J 278:677; Hum Mutat 1:445; Arterioscler Thromb 12:762; Chapter 5


BKPTS:
ex14 last nucleotide G joined the 1st two nucleotides GC of the duplicated ex9 which make a glycine codon


AUTHOR:
Horsthemke et al. 1987; Sun et al. 1992; Hobbs et al. 1992

REFERENCE:
J Med Genet 24:144; ATVB 12:762; Hum Mutat 1:445


AUTHOR:
Hobbs et al. 1988; Lelli et al. 1991; Hobbs et al. 1992; Bertolini et al. 1995

REFERENCE:
JCI 81:909; Arterioscler Thromb 11:234; Hum Mutat 1:445; Arterioscler Thromb Vasc Biol 15:81


AUTHOR:
Lehrman et al.1986; Hobbs et al. 1992; Lelli et al. 1993; Bertolini et al.1996

REFERENCE:
PNAS 83;3679; Hum Mutat 1:445; J Lipid Res 92:1347


AUTHOR:
Kajinami et al 1988; Mabuchi et al. 1990; Hobbs et al. 1992

REFERENCE:
Arterioscler 8:187; Ann NY Acad Sci 598:393; Hum Mutat 1:445


AUTHOR:
Koivisto et al.1992; Koivisto et al. 1992; Hobbs et al. 1992; Kotze et al. 1993.

REFERENCE:
Arterioscler 13:1680; Ann Med 24:363; Hum Mutat 1:445; Arterioscler Thromb 13:1460


AUTHOR:
Bertolini et al. 1995; Italian group 1996 & 1997

REFERENCE:
ATVB 15:81; FH Workshop 97; FH Workshop 97


REFERENCE:
Arterioscler Thromb 11:234; Hum Mutat 1:445; FH workshop 97


BKPTS:
del E479-55aa-term. Acceptor splice site in ex18 del. mRNA contains part of int15 where there is a termination codon.  Protein is 804aa, 749aa of normal NH2 terminus and 55 non-LDLR sequence. Between nucleotides 245 and 246.  In15-245bp to ex18+843bp."

AUTHOR:
Aalto-Setala et al. 1988, 1989 & 1992; Rodningen et al. 1992; Hobbs et al. 1992

REFERENCE:
FEBS 234:411; J Intern Med 231:227; Clin Genet 42:288; Hum Mut 1:445


BKPTS:
del E749-55aa-term. 165 nucleotides into int15 before a termination codon.  55 novel amino acids added.  In15-114 and ex18-118, between nucleotides -117 and -115.


BKPTS:
DelE749-55aa-term. Breakpoint is at -116 in the left arm of an Alu in int15 and joined to -7 in right arm of Alu sequenc in ex 18.  A single T is added in.


AUTHOR:
Kajinami et al. 1990; Mabuch et al. 1990

REFERENCE:
J Intern Med 227:247; Ann NY Acad Sci 598:393


BKPTS:
D333 to G333 & term codon 3aa downstream


# DOUBLE MUTANTS

AUTHOR:
Lombardi et al.96;Jensen et al.97;Ebhardt et al.99

REFERENCE:
Clin Genet 50:525;Hum Mutat 9:437;Hum Mutat 13:257


# FOUNDER GENE EFFECT MUTATIONS

AUTHOR:
Tricot-Guerber et al. 1995; Lombardi et al. 1996; Jensen et al. 1997; Day et al. 1997; Defesche et al. 1997; Haas et al. 1998


AUTHOR:
Leitersdorf et al. 1990; Hobbs et al. 1992; Jensen et al. 1996; Vohl et al. 1997


AUTHOR:
Bertolini et al. 1998; Bertolini et al, 1999


AUTHOR:
Mavroidis et al. 1997; Traeger-Synodinos et al. 1998


AUTHOR:
Bertolini et al. 1997; Traeger-Synodinos et al. 1998; Bertolini et al. 1999


AUTHOR:
Mavroides et al. 1997; Traeger-Synodinos et al. 1998


AUTHOR:
King-Underwood et al. 1991 and many more


AUTHOR:
Hobbs et al. 1992; Leitersdorf et al. 1993; Reschef et al. 1996

REFS:
Hum Mutat 1:445; Hum Genet 91:141; Hum Genet 98:581


AUTHOR:
Kotze et al. 1989; Rubinzstein et al. 1993; Graadt van Roggen et al. 1994; Stein et al. 1996; Toutouza et al. 1997 & many more

REFS:
S.Afr Med J 76:399; Arterioscler Thromb 13:1076; ATVB 15:765; Hum Genet 98:479; Athero 134:73


AUTHOR:
Pimstone et al. 1997; Peeters et al. 1997; Defesche et al. 1997; Lombardi et al. 1998

REFS:
ATVB 17:826; Hum Genet 100:266; FH Workshop 97; EAS 98


AUTHOR:
Hobbs et al. 1992; Torres et al. 1996; Vohl et al. 1997

REFS:
Hum Mutat 1:445; Atheroscler 126:163; Clin Genet 52:1


AUTHOR:
Ma et al. 1989; Leitersdorf et al. 1992; Hobbs et al. 1992; Sass et al. 1995


AUTHOR:
Russel et al. 1987; Top et al. 1990; Hobbs et al. 1992; Peeters et al. 1997; Lombardi et al. 1998

REFS:
Cold Spring Harbor Symp Quart Biol 51:811; Atheroscler 83:127; Hum Mutat 1:445; Hum Genet 96:401; EAS 98


AUTHOR:
Aalto-Setala et al. 1998 & 1992; Rodningen et al. 1992; Hobbs et al. 1992; Lind et al. 1998

REFS:
FEBS 234:;411; J Intern Med 231:227; Clin Genet 42:288; Hum Mutat 1:445; J Intern Med 244:19


# MUTATIONS

AUTHOR:
Hobbs et al. 1992; Day et al. 1997; Williams et al. 1998

REFS:
Hum Mut 1:445;Hum Mut 10:116;MEDPED 1998


AUTHOR:
Hobbs et al. 1990; Loux et al. 1992; Garuti et al. 1997; Benlian et al. 1997; Bertolini et al. 2000

REFS:
Ann Rev Genet 24: 133;Hum Mut 1: 325;FH Workshop 97; ATVB 20: e41


ETHNIC ORIGIN:
American-Canadian; German; Danish; Dutch; Spanish; Norwegian; Belgian

AUTHOR:
Hobbs et al. 1992; Jensen et al.1996;Nissen et al.1996; Jensen et al. 1999; Lombardi et al. 2000

REFS:
Hum Mut 1:445;Clin Chem 42: 1140;Scand J Clin Lab Invest 56: 75;Ather 146: 337;Clin Genet 57: 116


AUTHOR:
Leitersdorf et al. 1988; Djordjevic et al 1996; Toutouza et al. 1997; Thiart et al. 2000

REFS:
PNAS 85: 7912; Eur J Biochem 239: 214; Atheroscler 134: 73; J Med Genet 37: 514


AUTHOR:
Hobbs et al. 1992; Amsellem & Benlian 2000


AUTHOR:
van Wingerden et al. 1981; Hobbs et al. 1992


ETHNIC ORIGIN:
French-Canadian; Danish; German; Norwegian; English; Afrikaner; Swedish; N. Irish; French

AUTHOR:
Leitersdorf et al. 1990; Sun et al. 1997; Vohl et al. 1997; Day et al. 1997; Nauck et al. 1997; Heath et al. 1999; Amsellem & Benlian 2000


AUTHOR:
Hobbs et al. 1992; Garuti et al. 1997; Bertolini et al. 2000

REFS:
Hum Mut  1:445; FH Workshop 97; ATVB 20; e41


ETHNIC ORIGIN:
French; Belgian; Hungarian; German; Danish

AUTHOR:
Hobbs et al. 1992; Descamps et al. 1997; Szalai et al. 1997; Jensen et al. 1997;  Binder et al. 1998; Jensen et al. 1999

REFS:
Hum Mut 1: 445; Atheroscler 130: S26 & 134: 72; FH Workshop 97; EAS 1998; Atheroscler 146: 337


REFS:
J Clin Endocrinol Metab 72: 179; Hum Mut 1: 443


AUTHOR:
Hobbs et al. 1992; Bertolini et al. 2000


ETHNIC ORIGIN:
Phillipino; Canadian; Danish; Japanese; Spanish; S. African (Indian)

AUTHOR:
Hobbs et al. 1992; Rubinsztein et al. 1993; Maruyama et al. 1995; Kotze et al. 1997; Jensen et al. 1999 & many more


AUTHOR:
Hobbs et al. 1992; Mavroidis et al. 1997;  Couture et al. 1998

REFS:
Hum Mut 1: 445; Hum Mut 9: 274; Hum Mut S1: S226


ETHNIC ORIGIN:
Dutch; German; Greek; Spanish; Afrikaner; French; S. African (coloured)

AUTHOR:
Rubinsztein et al. 1993; Schuster & Humphries 1994; Steyn et al. 1996; Toutouza et al. 1997; Kotze et al. 1998; Lombardi et al. 2000; Amsellem & Benlian 2000

REFS:
ATVB 13:1076; Clin Invest 72:898; Hum Genet 98:479;Athero 134:73; Clin Genet 54:74&57:116; Pers Com


ETHNIC ORIGIN:
German; Dutch; Polish; Spanish; UK; Czech; F.American; Puerto Rican; French

AUTHOR:
Hobbs et al. 1989; Gudnason et al. 1993; Schuster et al. 1995; Lombardi et al. 1995; Day et al. 1997 Cenarro et al. 1998; Gorski et al. 1998; Amsellem & Benlian 2000 and many more


AUTHOR:
Hobbs et al. 1992; Reshef et al. 1996; Defesche et al. 1998; Redeker et al.1998; Lombardi et al.1998; Ekstrom et al. 1998

REFS:
Hum Mut 1: 445; Hum Genet 98: 581; MEDPED 98; EAS 98; Eur J Clin Invest 28: 740


ETHNIC ORIGIN:
Ashkenazi-Jewish; Polish; Russian; German; Afrikaners

AUTHOR:
Hobbs et al. 1990; Gudnason et al. 1993; Giesel et al. 1995; Reshef et al. 1996; Day et al. 1997; Gorski et al. 1998; Heath et al. 1999 and many more


ETHNIC ORIGIN:
African; American (black); English; Japanese

AUTHOR:
Hobbs et al. 1992; Webb et al. 1996; Iwata et al. 1997; Hattori et al. 1999

REFS:
Hum Mut 1: 445; JLR 37: 368; Atheroscler 134: 69; Hum Mut 14: 87


ETHNIC ORIGIN:
Afrikaner; American; English; Dutch; Greek; Norwegian; NZ English

AUTHOR:
Hobbs et al. 1992; Giesel et al. 1995; Kotze et al. 1998; Callis et al. 1998 and many more

REFS:
Hum Mut 1:445; Hum Genet 96:301; Clin Genet 54:74; Mol Cell Probes 12: 149


ETHNIC ORIGIN:
Morocan; American; UK; Swedish; Norwegian; German; Chinese; Korean; Dutch

AUTHOR:
Hobbs et al. 1992; Gudnason et al. 1994; Giesel et al. 1995; Leren et al.1997; Nauck et al 1997; Sun et al. 1998; Lee et al. 1998;Lombardi et al. 2000 and many more


ETHNIC ORIGIN:
French-Canadian; Italian; Mexican; Dutch; French; Chinese; S.African (Indian)

AUTHOR:
Leitersdorf et al. 1990; Hobbs et al. 1992; Garuti et al. 1997; Kotze et al. 1998; Loubser et al. 1999; Benlian et al. 1998; Pimstone et al. 1998; Mak et al. 1998; Bertolini et al. 2000 and many more


AUTHOR:
Hobbs et al. 1992; Schuster & Humphries 1994; Benlian et al. 1997

REFS:
Hum Mut 1: 445; Clin Invest 72: 898; e-mail sub 98


AUTHOR:
Hobbs et al. 1992; Webb et al. 1996; Mavroidis et al. 1997; Day et al. 1997; Amsellem & Benlian 2000 and many more

REFS:
Hum Mut 1: 445; JLR 37: 368; Hum Mut 9: 274 & 10: 116; Personal Communication


ETHNIC ORIGIN:
Afrikaner; American (black); Irish; Dutch

AUTHOR:
Hobbs et al. 1990; Defesche et al. 1998; Callis et al. 1998; Lombardi et al. 1998

REFS:
Ann Rev Genet 24:133; MEDPED 1998;Mol Cell Probes 12: 149;EAS 98


AUTHOR:
Hobbs et al. 1992; Webb et al. 1996; Benlian et al. 1997


AUTHOR:
Hobbs et al. 1992; Lombardi et al. 1995; Schuster et al. 1994; Pimstone et al. 1997; Jensen et al. 1999; Lombardi et al. 2000 and many more


AUTHOR:
Koivisto et al. 1992; Hobbs et al. 1992; Vuori et al. 1997; Heath et al. 1998; Lind et al. 1998

REFS:
JCI 90:219; Hum Mut 1:445; ATVB 17:3127; FH workshop 97; e-mail sub 98


AUTHOR:
Hobbs et al. 1992; Webb et al. 1996; Mavroidis et al. 1997; Xenophontos et al. 2000


AUTHOR:
Hobbs et al. 1992; Ginnochio et al. 1997; Garuti et al.1997; Cantafora et al. 1998

REFS:
Hum Mut 1:4456; Atheroscler 133;273; FH Workshop 97; EAS 98


AUTHOR:
Hobbs et al. 1992; Bertolini et al. 1997; Garuti et al. 1997; Cantafora et al. 1998; Bertolini et al. 1999

REFS:
Hum Mut 1:445; Med Genetik 9:355; FH workshop 97; ATVB:19:408; EAS 98


COMMENTS:
In cis with G>T at -175 (-279 on gene map) (#374) in S.A patient

ETHNIC ORIGIN:
Algerian; French; American; English; Asian Indian; S. African (black); Swedish

AUTHOR:
Hobbs et al. 1992; Schuster al. 1995; Webb et al. 1996; Sun et al. 1997 & 1998 & more


AUTHOR:
Hobbs et al. 1990; Hattori et al. 1997; Lombardi et al. 1998

REFS:
Ann Rev Genet 24:133; Atheroscler 134:68;EAS 98


COMMENTS:
35% internalisation and 40% degradation, 40% binding,


ETHNIC ORIGIN:
French; American; German; S.African (English); Dutch

AUTHOR:
Hobbs et al. 1992; Marz et al. 1998; Defesche et al. 1998; Binder et al. 1998 & more

REFS:
Hum Mut 1:445; Med Genetik 9:358; MEDPED 98


AUTHOR:
Hobbs et al. 1992; Bertolini et al. 1997; Garuti et al. 1997; Bertolini et al. 1999

REFS:
Hum Mut 1:445; Med Genetik 9:355; FH Workshop 97; ATVB:in press


AUTHOR:
Hobbs et al. 1992; Leren et al. 1993; Schuster & Humphries 1994; Leren et al. 1997 and many more

REFS:
Hum Mut 1:445; Hum Genet 92:6; Clin Invest 72:898; FH Workshop 97; J Int Med 241:185


AUTHOR:
Hobbs et al.1992; Lombardi et al.1995; Fascetti et al.1997; Chae et al.1997; Defesche et al.1997; Garuti et al.1997 and many more

REFS:
Ann Rev Genet 24:133; JLR 36:860; Athero 135:S12; Am J Hum Genet 61:A409: FH Workshop 97;ATVB 19:408


AUTHOR:
Esser et al. 1988; Hobbs et al. 1992; Garuti et al. 1997

REFS:
J Biol Chem 263:13276; Hum Mut 1:445;  FH Workshop 97


AUTHOR:
Hobbs et al. 1992; Ekstrom et al. 1995; Jensen et al. 1996 & 1997

REFS:
Hum Mut 1:445; Hum Genet 96:147; Clin Genet 50:388; FH Workshop 97


ETHNIC ORIGIN:
Italian; German; Polish; Austrian; Belgian; Flemish-Walloon

AUTHOR:
Hobbs et al. 1992; Descamps et al. 1997; Fascetti et al. 1997; Bertolini et al. 1997; Kobalska et al. 1997 and many more

REFS:
Hum Mut 1:445; Atheroscler 130:S26 & 135:S12; Med Genetik 9:355; MEDPED 97; FH Workshop 97


AUTHOR:
Hobbs et al. 1992; Descamps et al. 1997; Fascetti et al. 1997; Bertolini et al. 1997; Kobalska et al. 1997; Cenarro et al. 1998 and many more

REFS:
JCI 85:1014; FH Workshop 97; Hum Mut Online #135


ETHNIC ORIGIN:
Christian Lebanese; Syrian; French; Austrailian; S. African (European); English

AUTHOR:
Lehrman et al. 1987; Oppenheim 1991; Figueiredo et al 1992; Day et al. 1997; Benlian et al. 1997


AUTHOR:
Hobbs et al. 1992; Nissen et al. 1997; Marz et al. 1997; Callis et al. 1998

REFS:
Hum Mut 1:445; FH Workshop 97; Med Genetik 9:358; Journal sub 98


COMMENTS:
France, Saudi Arabia (different haplotype)

AUTHOR:
Lehrman et al. 1985; Loux et al. 1991; Hobbs et al. 1992; Jensen et al. 1997; Benlian et al. 1997

REFS:
Cell 41:735; Hum Mut 1:445; Hum Genet 87:373;  FH Workshop 97


AUTHOR:
Lehrman et al. 1985; Hobbs et al. 1992; Benlian et al. 1997

REFS:
Cell 41:735; Hum Mut 1:445; Ann Rev Genet 33;65


COMMENTS:
-138 reading from nuc+1 (Correct location -92)


COMMENTS:
-137reading from nuc+1 (Correct location -44)


COMMENTS:
-135 reading from nuc+1 (Correct location -42)


AUTHOR:
Hobbs et al. 1987 & 1992; Leitersdorf et al. 1990; Fumeron et al. 1992; Sun et al. 1994


AUTHOR:
Hobbs et al. 1988 & 1992; Sun et al. 1994


AUTHOR:
Top et al. 1990; Lelli et al. 1991; Sun et al. 1992; Hobbs et al. 1992

REFS:
Atheroscler 83:127; Arterioscler Thromb 11:234; Arterio Thromb 12:762; Hum Mut 1:445


AUTHOR:
Bertolini et al. 1992; Hobbs et al. 1992


REFS:
J Intern Med 227:247; Hum Mut 1:445; is J.Biochem.113:372 same mutn.?


AUTHOR:
Ma et al. 1989; Leitersdorf et al. 1992; Hobbs et al. 1992; Sass et al. 1995


AUTHOR:
Henderson et al. 1988; Hobbs et al. 1990 & 1992

REFS:
Hum Genet 80:371; Ann Rev Genet 24:133; Hum Mut 1:445


AUTHOR:
Langlois et al. 1988; Hobbs et al. 1992; Lombardi et al. 1997

REFS:
Am J Hum Genet 43:60; Hum Mut 1:445; Clin Genet 51:286


AUTHOR:
Hobbs et al. 1990 & 1992; Sun et al. 1994


AUTHOR:
Horsthemke et al. 1987; Hobbs et al. 1992; Sun et al. 1992, 1997 & 1998


REFS:
Eur J Biochem 198:107; Clin Genet 39:451; Hum Mut 1:445


AUTHOR:
Kontula et al. 1992; Aalto-Setala et al. 1992; Hobbs et al. 1992

REFS:
Ann Med 24:363; J Intern Med 231:227; Hum Mut 1:445


AUTHOR:
Miyake et al. 1989; Kajimami et al. 1990; Sun et al. 1992;  Hobbs et al. 1992

REFS:
JBC 264:16584; J Intern Med 227:247; Arterioscler Thromb 12:762; Hum Mut 1:445


REFS:
Arterioscler Thromb 12:762; Hum Mut 1:445


AUTHOR:
Russell et al. 1987; Top et al. 1990; Hobbs et al. 1992; Peeters et al. 1997; Lombardi et al. 1998

REFS:
Cold Spring Harbor Symp Quart Biol 51:811;Atheroscler 83:127;Hum Mut 1:445; Hum Genet 96:401;EAS98


AUTHOR:
Henderson et al. 1987; van der Westhuyzen et al. 1991; Hobbs et al. 1992; Sun et al. 1992; Defesche et al. 1997; Lombardi et al. 1998

REFS:
Hum Genet 80:371; Biochem J 278:677; Hum Mut 1:445; Arterioscler Thromb 12:762; Chapter 5;EAS 98


AUTHOR:
Horsthemke et al. 1987; Sun et al. 1992,97,98; Hobbs et al. 1992


AUTHOR:
Top et al. 1990; Hobbs et al. 1992; Lombardi et al. 1998

REFS:
Atheroscler 83:127; Hum Mut 1:445;EAS 98


AUTHOR:
Horsthemke et al. 1987; Hobbs et al. 1992; Sun et al. 1997 & 1998

REFS:
Eur J Biochem 164:77; Hum Mut 1:445; ATVB 17:3092; Atheroscler 136:175


ACTIVITY:
<2% (43-50% Bertolini et al) LDLR activity,

AUTHOR:
Hobbs et al. 1988; Lelli et al. 1991; Hobbs et al. 1992; Bertolini et al. 1995

REFS:
JCI 81:909; Arterioscler Thromb 11:234; Hum Mut 1:445; ATVB 15:81


AUTHOR:
Kajimami et al. 1988; Mabuchi et al. 1990; Hobbs et al. 1992


AUTHOR:
Hobbs et al. 1992; Koivisto et al. 1992; Kontula et al. 1992; Kotze et al. 1993


REFS:
Arterioscler 8:187; Ann NY Acad Sci 598:393; Hum Mut 1:445


AUTHOR:
Langlois et al. 1988; Hobbs et al. 1992; Koivisto et al. 1993

REFS:
Hum Mut 1:445; Arterioscler 13:1680; Ann Med 24:363; Arterioscler Thromb 13:1460 & 1680


AUTHOR:
Hobbs et al. 1988; Lelli et al. 1991; Hobbs et al. 1992


AUTHOR:
Lelli et al. 1991; Hobbs et al. 1992; Bertolini et al, 1999

REFS:
Arterioscler Thromb 11:234; Hum Mut 1:445; ATVB 19:408


AUTHOR:
Aalto-Setala et al. 1988 & 1992; Rodningen et al. 1992; Hobbs et al. 1992; Lind et al.1998

REFS:
FEBS 234:411; J Intern Med 231:227; Clin Genet 42:288; Hum Mut 1:445; J Intern Med 244:19


AUTHOR:
Lombardi et al. 1995; Ebhardt et al. 1997; Defesche et al. 1997

REFS:
JLR 36:860-867; Med Genetik 9:102-103; FH Workshop 97


AUTHOR:
Lombardi et al. 1995; Defesche et al. 1997; Descamps et al. 1997; Benlian et al. 1997; Ekstrom et al. 1998 & more

REFS:
Hum Mut 1: S172; FH Workshop 97; Clin Genet 51: 303; e-mail sub 97; Eur J Clin Investig 28: 740


AUTHOR:
Lombardi et al. 1995; Defesche et al. 1997


AUTHOR:
Pimstone et al. 1997; Defesche et al. 1997


AUTHOR:
Langenhoven et al. 1996; Defesche et al. 1997; Lombardi et al. 1998

REFS:
Atheroscler 125:111; FH Workshop 97;EAS 98


AUTHOR:
Lombardi et al. 1998; Sijbrands et al. 1997

REFS:
Hum Mut S1:S172-174; Atheroscler 136:247


AUTHOR:
Lombardi et al. 1993; Defesche et al. 1997


AUTHOR:
Leren et al. 1994; Day et al. 1997;Lind et al. 1998

REFS:
Atheroscler 111: 175; Hum Mut 10:116;J Intern Med 244:19


COMMENTS:
-152 reading from nuc+1Correct location is -59.


AUTHOR:
Koivisto et al. 1995; Bertolini et al. 2000; Amsellem & Benlian 2000

REFS:
Am J Hum Genet 57: 789; ATVB 20; e41; Personal Communication


AUTHOR:
Koivisto et al. 1995; Ginnochio et al. 1997; Garuti et al. 1997; Bertolini et al. 2000

REFS:
Am J Hum Genet 57: 789; Atheroscler 133: 273; FH Workshop 97; ATVB 20: e41


AUTHOR:
Schuster et al. 1995 & 1997; Kuhrova et al. 1999

REFS:
ATVB 15: 2176; FH Workshop 97; e-mail sub 99


AUTHOR:
Schuster et al. 1995; Defesche et al. 1998; Peeters et al. 1998; Lombardi et al. 1998

REFS:
ATVB 15:2176; MEDPED 1998; Journal sub;EAS 98


ETHNIC ORIGIN:
Swedish; Belgian; Spanish; German; Cuban; Italian; Indian; French

AUTHOR:
Ekstrom et al. 1995; Pereira et al. 1995; Descamps et al. 1997;Vallve et al. 1997; Cenarro et al. 1998; Bertolini et al. 2000; Khoo et al. 2000; Amsellem & Benlian 2000


AUTHOR:
Day et al. 1997; Mak et al. 1998; Khoo et al. 2000


AUTHOR:
Schuster et al. 1994; Day et al. 1997; Defesche et al. 1997;Redeker et al. 1998; Lombardi et al. 1998

REFS:
Clin Invest 72:898; Hum Mut 10:116; FH Workshop 97;EAS 98


AUTHOR:
Sun et al. 1992; Gudnason et al. 1993; Day et al. 1997; Sun et al. 1998; Graham et al. 1999


AUTHOR:
Sun et al. 1992; Gudnason et al. 1993; Day et al. 1997; Lee et al. 1998; Graham et al. 1999; Amsellem & Benlian 2000

REFS:
ATVB 12: 762 & 13 :56; Hum Mut 10: 116; J Med Genet 35: 573; Ather 147: 309; Personal Communication


AUTHOR:
Day et al. 1997; Nissen et al. 1998; Amsellem & Benlian 2000

REFS:
Hum Mut 10: 116;Clin Genet 54: 79; Personal Communication


AUTHOR:
Day et al. 1997; Defesche et al. 1997; Redeker et al.1998; Lombardi et al. 1998; Heath et al. 1999

REFS:
Hum Mut 10:116, e-mail sub 1998; EAS 98; Athroscler 143: 41


AUTHOR:
Day et al. 1997; Defesche et al. 1997;Redeker et al. 1998;Lombardi et al. 1998


AUTHOR:
Day et al. 1997; Defesche et al. 1998; Neely et al. 1998;Lombardi et al. 1998; Redeker et al. 1998

REFS:
Hum Mut 10:116;MEDPED 1998; e-mail sub 98;EAS 98


COMMENTS:
Found on same LDLR allele as #168 (N543H);67% W.Friesland Dutch population

AUTHOR:
Pimstone et al. 1997; Jensen et al. 1997; Defesche et al. 1997; Lombardi et al. 1998


AUTHOR:
Ward et al. 1996; Pocovi et al. 1998; Mozas et al. 2000

REFS:
Atheroscler 120: 83; e-mail sub 1998; Hum Mut (online#326) 15: 483


COMMENTS:
8.7% in N.Ireland, founder gene effect-one haplotype.

REFS:
FH Workshop 97; J Med Genet 35: S1: 14.20; Athero 147:309


AUTHOR:
Loux et al. 1992; Benlian et al. 1997; Chaves et al. 1997; Lasuncion et al. 1998


COMMENTS:
-218 reading from nuc+1 (Correct location -124)


AUTHOR:
Vallve et al. 1997 & 1998; Ward & Graham 1999


AUTHOR:
Arca et al. 1998; Lee et al. 1998; Graham et al. 1999

REFS:
e-mail sub 98; J Med Genet 35: 573; Atheroscler 147: 309


AUTHOR:
Ward et al. 1995; Webb et al. 1996; Heath et al. 1999


AUTHOR:
Rubinsztein et al. 1993; Kotze et al. 1997

REFS:
Biochim Biophys Acta 1182: 75; Clin Genet 51: 394


AUTHOR:
Giesel et al. 1995; Webb et al. 1996; Iwata et al. 1997; Kotze et al. 1997

REFS:
Hum Genet 96: 301; JLR 37: 368; Atheroscler 134: 69; Clin Genet 51: 394; Hum Mut 6: 181


AUTHOR:
Lelli et al. 1994; Garuti et al. 1997; Bertolini et al. 2000

REFS:
Hum Genet 93: 538; FH Workshop 97; ATVB 20: e41


AUTHOR:
Bertolini et al.1997; Lombardi et al.1997; Garuti et al.1997; Defesche et al.1998; Peeters et al.1998, Cantafora et al.1998; Bertolini et al. 1999

REFS:
Med Genetik 9:355; Atheroscler 130:S14; FH Workshop 97; Journal sub 98; EAS 98; ATVB 19;408


AUTHOR:
Schuster & Humphries 1994; Sun et al. 1997 & 1998; Gudnason et al. 1998

REFS:
Clin Invest 72:898; ATVB 17:3092; Atheroscler 136:175; e-mail sub 98


AUTHOR:
Mavroides et al. 1997; Chaves et al. 1998; Lasuncion et al. 1998;

REFS:
Hum Mut 9: 274;Med Clin (Barc) 110: 300; EAS 98


AUTHOR:
Lombardi et al. 1995; Pimstone et al. 1997; Schmidt & Kostner 1997; Defesche et al. 1997; Heath et al. 1999; Lombardi et al. 2000

REFS:
J Lip Res  36: 860; ATVB 17: 826; MEDPED 97; FH Workshop 97; Atheroscler 143: 41; Clin Genet 57: 116


AUTHOR:
Day et al. 1997; Kotze et al. 1997;Callis et al. 1998; Loubser et al. 1999

REFS:
Hum Mut 10: 116; Clin Genet 51: 394; Mol Cell Probes 12: 149; Clin Genet 55: 340


AUTHOR:
Sun et al. 1994; Schmidt & Kostner 1997; Pimstone et al. 1998


AUTHOR:
Hobbs et al. 1992; Bertolini at al. 1992 & 2000

REFS:
Hum Mut 1: 445; Am J Hum Genet  51: 123; ATVB 20: e41


AUTHOR:
Maruyama et al. 1995; Iwata et al. 1997; Hattori et al. 1999


MUTATION DETAILS:
Del 1115 to 1123 (AGGGTGGCT)/ ins CACTGA

AUTHOR:
Yamakawa-Kobayashi et al. 1994; Iwata et al. 1997


ETHNIC ORIGIN:
Spanish; Belgian, Sephardic Jewish from Morocco; Flemish-Walloon

AUTHOR:
Cenarro et al.1996; Reshef et al.1996; Descamps et al. 1997

REFS:
Clin Genet 49: 180; Hum Genet 98: 581; Atheroscler 130: S26


AUTHOR:
Descamps et al. 1997; Amsellem & Benlian 2000

REFS:
Atheroscler 130: S26; Personal Communication


ETHNIC ORIGIN:
Belgian; Spanish; Dutch; Italian; Flemish Walloon

AUTHOR:
Descamps et al. 1997; Chaves et al. 1997; Defesche et al. 1997; Bertolin et al. 1998; Peeters et al. 1998 & more

REFS:
Atheroscler 130:S14; FH Workshop 97; MEDPED 1998; e-mail sub 98; Journal sub 98


COMMENTS:
-136 reading from nuc+1 (Correct location-43)

AUTHOR:
Koivisto et al. 1994; Jensen et al. 1996


AUTHOR:
Jensen et al. 1996; Defesche et al. 1998; Nissen et al. 1998; Lombardi et al. 1998

REFS:
Clin Chem 42:1140, e-mail sub 1998;Clin Genet 54:79;EAS 98


AUTHOR:
Schuster & Humphries 1994; Arca et al. 1998; Baron & Schuster 1998

REFS:
Clin Invest 72: 898; e-mail sub 98; French database 98


AUTHOR:
Schuster et al. 1995; Callis et al. 1998


AUTHOR:
Cavanaugh et al. 1994; Schuster et al. 1995; Jensen et al. 1996; Bertolini et al.1997 & 1998 and many more

REFS:
ATVB 15:2176; Hum Mut 4:276; Clin Genet 49:88; Med Genetik 9:355


REFS:
Am J Hum Genet 61: A409; J Hum Genet 43: 250


AUTHOR:
Ginnochio et al. 1997; Garuti et al. 1997; Cassanelli et al. 1998; Bertolini et al.


AUTHOR:
Garuti et al. 1997; Bertolini et al. 2000


AUTHOR:
Ginnochio et al. 1997; Garuti et al. 1997; Bertolini et al. 2000

REFS:
Atheroscler 133: 273; FH Workshop 97; ATVB 20: e41


AUTHOR:
Ginocchio et al. 1997; Bertolini et al. 2000


AUTHOR:
Bertolini et al. 1997; Garuti et al. 1997; Patel et al. 1998

REFS:
Med Genetik 9:355; FH Workshop 97;JLR 39:146


AUTHOR:
Ginnochio et al. 1997; Garuti et al. 1997


AUTHOR:
Bertolini et al. 1997; Garuti et al. 1997; Bertolini et al. 1999

REFS:
Med Genetik 9:355; FH Workshop 97; ATVB:19:408


AUTHOR:
Day et al. 1997; Sun et al. 1997&1998; Graham et al. 1999


REFS:
Atheroscler 121:105 and FH workshop 1997


AUTHOR:
Bertolini et al. 1997& 1999; Garuti et al. 1997

REFS:
Med Genetik 9:355; FH Workshop 97;ATVB:19:408


AUTHOR:
Lelli et al. 1995; Garuti et al. 1997; Bertolini et al. 1999


AUTHOR:
King-Underwood et al. 1991; Maruyama et al. 1995 and many more

REFS:
Clin Genet 40:17-28; PNAS 86:4166-4170; Eur J Biochem179:693-8; FH Workshop 97


AUTHOR:
Hobbs et al. 1992; Jensen et al. 1996; Nissen et al. 1997; Slimane et al. 1997; Benlian et al. 1997;Garuti et al. 1997; Bertolini et al. 2000

REFS:
Hum Mut 1:445; Clin Genet 49:175; Ather 128:75&134:72; e-mail sub 97; FH Workshop 97;  ATVB 20:e41


AUTHOR:
Ginnochio et al. 1997; De Mattei et al. 1997; Garuti et al. 1997; Sun et al. 1997 & 1998; Bertolini et al. 1998

REFS:
Atheroscler 133:273 & 134:66; FH Workshop 97; ATVB 17:3092 & Atheroscler 136:175


ETHNIC ORIGIN:
Italian; American; Norwegian; German; Austrian; Swedish; Afrikaners; Spanish;N.Irish; French

AUTHOR:
Hobbs et al. 1992; Gudnason et al. 1994; Leren et al. 1997; Cenarro et al. 1998; Graham et al. 1999; Schmidt et al. 2000; Bertolini et al. 2000; Amsellem & Benlian 2000


AUTHOR:
Lombardi et al. 1997; Nauck et al. 1997; Defesche et al.1997

REFS:
Clin Genet 51: 430; Atheroscler 134:70;  FH Workshop 97


AUTHOR:
Lombardi et al. 1997; Defesche et al.1997; Nauck et al. 1998; Lombardi et al. 2000

REFS:
Atheroscler 130: S14; FH Workshop 97; e-mail sub 98; Clin Genet 57: 116


AUTHOR:
Defesche et al.1997; Haas et al. 1998; Ebhardt et al. 1999; Lombardi et al. 2000

REFS:
FH Workshop 97; EAS 98; Hum Mut 13: 257; Clin Genet 57: 116


AUTHOR:
Defesche et al.1997 & 1998; Lombardi et al. 2000

REFS:
FH Workshop 97; MEDPED 1998; Clin Genet 57: 116


AUTHOR:
Defesche et al.1997; Lombardi et al. 2000


AUTHOR:
Defesche et al.1997; Lombardi et al.1997 & 2000

REFS:
FH Workshop 97; Atheroscler 130:S14; Clin Genet 57: 116


REFS:
FH Workshop 97; Atheroscler 130: S14; Clin Genet 57: 116


AUTHOR:
Defesche et al.1997; Lombardi et al. 1997


AUTHOR:
Lombardi et al.1995; Defesche et al.1997; Chaves et al. 1997


AUTHOR:
Maruyama et al. 1997; Defesche et al. 1997; Kostner et al. 1998

REFS:
Hum Mut Online #139; FH Workshop 97; e-mail sub 98


ETHNIC ORIGIN:
German-Canadian; Dutch; Polish; Norwegian; French

AUTHOR:
Hobbs et al. 1992; Leren et al. 1997; Lombardi et al. 2000; Amsellem et al. 2000

REFS:
Hum Mut 1: 445; J Intern Med 241: 185; Clin Genet 57: 116; Personal communication


COMMENTS:
-146 reading from nuc+1 (Correct location -53)


AUTHOR:
Solberg et al. 1994; Day et al. 1997; Descamps et al. 1997; Defesche et al. 1997 and many more

REFS:
Scand J Clin Lab Invest 54:605; Hum Mut 10:116;Atheroscer 130: S26;FH Workshop 97; Hum Muta 98:S32


AUTHOR:
Pimstone et al. 1997; Defesche et al.1997


AUTHOR:
Lombardi et al.1997; Defesche et al.1997


AUTHOR:
Hobbs et al. 1992; Defesche et al. 1998; Lombardi et al. 1998


AUTHOR:
Top et al. 1993; Defesche et al.1997; Lombardi et al. 1998


AUTHOR:
Pimstone et al. 1997; Peeters et al. 1997; Defesche et al. 1997; Lombardi et al. 1998

REFS:
ATVB 17:826; Hum Genet 100:266; FH Workshop 97; EAS 98


ETHNIC ORIGIN:
French; Danish; Dutch; UK; German; American

AUTHOR:
Tricot-Guerber et al. 1995; Jensen et al. 1997; Day et al. 1997; Defesche et al. 1997; Haas et al. 1998; MEDPED USA 1998


AUTHOR:
Lombardi et al.1997; Defesche et al.1997; Schmidt & Kostner 1997

REFS:
Atheroscler 130:S14; FH Workshop 97; MEDPED 1997


AUTHOR:
Lombardi et al.1997& 2000; Defesche et al.1997

REFS:
Atheroscler 130: S14; Clin Genet 57: 116;  FH Workshop 97


AUTHOR:
Hobbs et al. 1992; Reschef et al. 1996; Defesche et al. 1997; Lombardi et al. 1998

REFS:
Hum Mut 1:445; Hum Genet 98:581; FH Workshop 97;EAS 98


AUTHOR:
Kubalska et al. 1997; Day et al. 1997; Gorski et al. 1998

REFS:
FH Workshop 97; Hum Mut 10:116; Hum Genet 102;562


AUTHOR:
Kubalska et al. 1997; Gorski et al. 1998


AUTHOR:
Kubalska et al. 1997; Thiart et al. 1998


AUTHOR:
Kubalska et al. 1997; Thiart et al. 1998; Gorski et al. 1998

REFS:
FH Workshop 97;Mol Cell Probes 11:457; Hum Genet 102:562-565;


REFS:
Med Genetik 9:369; Mol Genet Metab 63: 31


AUTHOR:
Hobbs et al. 1992; Sun et al. 1994; Cenarro et al. 1997; Chaves et al. 1997

REFS:
Hum Mut 1:445;ATVB 14:85; Hum Mut(online #135) 11: 413; FH Workshop 97


AUTHOR:
Cenarro et al. 1998; Bertolini & Callandra 1998; Lasuncion et al. 1998; Chaves et al. 1998

REFS:
Hum Mut Online 1998 #135; e-mail sub 98;EAS 1998


ETHNIC ORIGIN:
American; English; French; Spanish; German; N. Irish

AUTHOR:
Webb et al. 1992; Loux et al. 1992; Chaves et al. 1997; Benlian et al. 1997; Day et al. 1997; Giesel et al. 1998; Heath et al. 1999 & many more

REFS:
JLR 33:689; Hum Mut 1:325; FH Workshop 97; Hum Mut 10:116; Clin Chem Lab Med 36:279; Ather 147: 309


AUTHOR:
Chaves et al. 1997; Hirayama et al. 1998


AUTHOR:
Chae et al. 1997; Callis et al. 1998; Khoo et al. 2000

REFS:
Am J Hum Genet 61: A409; Mol Cell Probes 12: 149; Clin Genet 58: 98


ETHNIC ORIGIN:
UK; American; Spanish; Dutch; Norwegian; Czech; German

AUTHOR:
Day et al. 1997; Leren et al. 1997; Chaves et al. 1997; Kuhrova et al. 1997; Defesche et al. 1997;Lombardi et al. 1998

REFS:
Hum Mut 10:116; J Int Med 241:185; FH Workshop 97; Hum Mut S1: S327; MEDPED 98;EAS 98


ETHNIC ORIGIN:
French; American; Danish; Dutch; English

AUTHOR:
Hobbs et al. 1992; Descamps et al.; Jensen et al. 1997; Day et al. 1997; Heath et al, 1998  and many more

REFS:
Hum Mut 1:445; Hum Mut 10:116; e-mail sub 98


AUTHOR:
van der Westhyyzun et al. 1984; Benlian et al. 1997; Mak et al. 1998

REFS:
Arterioscler 4:238; e-mail sub 97; ATVB 18:1600


COMMENTS:
-269 reading from nuc+1 (Correct location -175 )

AUTHOR:
Scholtz et al. 1997
Marz et al. 1997; Schmidt & Kostner 1997; Nauck et al. 1997; Defesche et al. 1997


ETHNIC ORIGIN:
S.African (black); Austrian; Dutch; German; Chinese

AUTHOR:
Marz et al. 1997; Schmidt & Kostner 1997; Nauck et al. 1997; Lombardi et al. 2000; Khoo et al. 2000

REFS:
Med Genetik 9: 358; MEDPED 1997; Atheroscler 134: 70; Clin Genet 57: 116 & 58: 98


AUTHOR:
Marz et al. 1997; Peeters et al. 1997; Arca et al. 1998;Thiart et al. 1998

REFS:
Med Genetik 9:358; e-mail sub 97; Atheroscler 136:187;EAS 98


AUTHOR:
Marz et al. 1997; Peeters et al. 1997; Thiart et al. 1998

REFS:
Med Genetik 9:358; Journal sub 98;EAS 98


AUTHOR:
Marz et al. 1997; Thiart et al. 1998; Haas et al. 1998

REFS:
Med Genetik 9: 358; Hum Mut S1: S232; EAS 98


AUTHOR:
Marz et al. 1997; Thiart et al. 1998; Schmidt et al. 1998; Haas et al.1998

REFS:
Med Genetik 9:358; Hum Mut S1:S232; NAR 26:248;EAS 98


AUTHOR:
van der Westhyyzun et al. 1984; Mak et al. 1998; Khoo et al. 2000

REFS:
Arterioscler 4:238; ATVB 18:1600; Clin Genet 58: 98


AUTHOR:
Heath et al. 1999; Miyake & Yamamura 1998; Haas et al.1998


AUTHOR:
Nauck et al. 1997; Couture et al. 1998; Morash et al. 1998; Ebhardt et al. 1999

REFS:
Atheroscler 134: 70; Hum Mut 1: S226; Atheroscler 136: 9; Hum Mut (online#226) 13: 257


AUTHOR:
Heath et al. 1998; Bertolini & Callandra 1998;


AUTHOR:
Leren et al. 1994; Lombardi et al. 1995; Jensen et al. 1996; Pimstone et al. 1997 and many more


AUTHOR:
Pereira et al. 1995; Thiart & Kotze 1998; Mak et al. 1998

REFS:
Hum Genet 96:319; French database 98; ATVB 18:1600


AUTHOR:
Day et al. 1997; Lombardi et al. 1997; Defesche et al. 1997

REFS:
Hum Mut 10:116; Atheroscler 130:S14; FH Workshop 97


AUTHOR:
Sundvold et al. 1996; Leren et al. 1997; Marz et al. 1997; Loubser et al. 1999

REFS:
Hum Mut 7: 70; Atheroscler 111: 175; Med Genetik 9: 358; Clin Genet 57: 116


AUTHOR:
Gunderson et al. 1996; Leren et al. 1997


AUTHOR:
Simard et al. 1994; Assouline et al. 1997; Heath et al. 1998

REFS:
Hum Mol Genet 3;1689-1691; Hum Mut 9:555; e-mail sub 98


AUTHOR:
Hobbs et al. 1992; Webb et al. 1996; Day et al. 1997; Heath et al. 1999

REFS:
Hum Mut 1: 445; J Lipid Res 37: 368; Hum Mut 10: 116; atheroscler 143: 41


AUTHOR:
Hobbs et al. 1992; Leitersdorf et al. 1993; Reshef et al. 1996

REFS:
Hum Mut 1: 445; Hum Genet 91: 141; Hum Genet 98: 581


ETHNIC ORIGIN:
S.African (Indian); American (black); Sephardic Jewish from Iraq


ETHNIC ORIGIN:
American; Austrian; German: Dutch; Czech

AUTHOR:
Hobbs et al. 1992;Defesche et al. 1998; Lombardi et al. 1998;Redeker et al. 1998; Schmidt et al. 2000

REFS:
Hum Mut 1:445; FH workshop 1997; MEDPED 1998; EAS 98; Atheroscler 148: 431


ETHNIC ORIGIN:
Afrikaner; Greek; Chinese; UK;German;Cuban; Dutch; Japanese

AUTHOR:
Kotze et al. 1989; Schuster et al. 1993; Pereira et al. 1995; Day et al. 1997; Mak et al. 1998

REFS:
S Afr Med J 76:399; Hum Genet 91:287; Hum Genet 96:319; Hum Mut 10:116; Hum Mut S1:S310


ETHNIC ORIGIN:
Afrikaner; Finnish; American (black); Chinese(Hong Kong); Slovenian

AUTHOR:
Hobbs et al. 1992; Koivisto et al. 1995; Mak et al. 1998; Menzel et al. 1999

REFS:
Hum Mut 1:445; Am J Hum Genet 57;789; ATVB 18:1600; e-mail sub 1999


ETHNIC ORIGIN:
Italian; Greek; Austrian; S.African (European); Sicilian

AUTHOR:
Hobbs et al.1990; Bertolini et al.1997; Schmidt et al.1997; Traeger-Synodinos et al 1997; Fascetti et al.1997; Bertolini et al. 1990

REFS:
Ann Rev Genet 24:133; Med Genetik 9:355;MEDPED 97; FH Workshop 97; Atheroscler 135:S12; ATVB 19:408


REFS:
Clin Genet 49: 85; J Intern Med 241: 185


AUTHOR:
Defesche et al. 1997; Lombardi et al. 1998


AUTHOR:
Cenarro et al. 1996; Amsellem & Benlian 2000

REFS:
Clin Genet 49:180; Personal Communication


AUTHOR:
Bertolini et al. 1997; Bertolini et al. 1997 & 2000


MUTATION DETAILS:
Inframe dup S44-C292, V>L change at junction

AUTHOR:
Bertolini et al. 1997; Patel et al. 1998; Bertolini et al. 2000


AUTHOR:
Brown & Goldstein 1976; Davis et al. 1986; Hobbs et al. 1992; Garuti et al. 1997

REFS:
Cell 9:663; Hum Mut 1:445; FH Workshop 97


AUTHOR:
Koivisto et al. 1995; Sun et al. 1997 & 1998

REFS:
Am J Hum Genet 57:789; ATVB 17:3092; Atherosclerosis 136:175


ETHNIC ORIGIN:
Finnish; German; Spanish; S.African (Indian)

AUTHOR:
Koivisto et al. 1995; Giesel et al. 1995; Cenarro et al. 1998; Kotze et al. 1997

REFS:
Am J Hum Genet 57: 789; Hum Genet 96: 301; Hum Mut (online #135) 11: 413; ;Clin Genet 51: 394


AUTHOR:
Loux et al. 1991 & 1992; Benlian et al. 1997; Defesche et al.1998; Lombardi et al. 1998

REFS:
Hum Genet 87: 373; Clin Genet 54: 79; e-mail sub 97; FH Workshop 97; EAS 98


ACTIVITY:
43% activity + sterols and 25% - sterols

COMMENTS:
-138 reading from nuc+1 (Correct location -45)

REFS:
Hum Mol Genet 95: 2125; ATVB 17:3092; Atheroscler 136:187


MUTATION DETAILS:
del GTGCTGATG/Ins CGGCT at consensus splice branch

COMMENTS:
3mRNA species, base change at our -29 from ex10 as a T is missing from the sequence between 1331-1332


ETHNIC ORIGIN:
Askenazi Jewish from Russia/Hungary; Spanish


AUTHOR:
Reshef et al. 1996; Amsellem et al. 2000


ETHNIC ORIGIN:
French; Sephardic Jewish from Syria; Austrian; Belgian; Dutch

AUTHOR:
Hobbs et al. 1992; Reshef et al. 1996; Schmidt & Kostner 1997; Benlian et al. 1997; Defesche et al. 1998 & more

REFS:
Hum Mut 1:445; Hum Genet 98: 581; MEDPED 1997; MEDPED 1998


AUTHOR:
Landsberger et al. 1992; Reshef et al. 1996

REFS:
Am J Hum Genet 50: 427; Hum Genet 98: 581


AUTHOR:
Jensen et al. 1996 & 1997; Nissen et al. 1997

REFS:
Clin Chem 42:1140; Atheroscler 131:67; FH Workshop 97


AUTHOR:
Cenarro et al. 1998; Amsellem & Benlian 2000

REFS:
Hum Mut  (online #135) 11: 413; Personal Communication


AUTHOR:
Defesche et al. 1997; Redeker et al. 1998; Lombardi et al. 1998


AUTHOR:
Sun et al. 1997; Pimstone et al. 1997; Vergopoulos et al. 1998; Defesche et al. 1998 & more

REFS:
Artheroscler 134: 72; ATVB 18: 309;Hum Mut submitted; e-mail sub 98


AUTHOR:
Defesche et al. 1998; Lombardi et al. 1998; Redeker et al. 1998


AUTHOR:
Defesche et al. 1998; Lombardi et al. 1998


AUTHOR:
Lombardi et al. 1995; Defesche et al. 1998


AUTHOR:
Defesche et al. 1998; Redeker et al. 1998; Lombardi et al. 1998


AUTHOR:
Defesche et al. 1998;Redeker et al. 1998; Lombardi et al, 1998


AUTHOR:
Defesche et al. 1998;Lombardi et al. 1998; Redeker et al. 1998


REFS:
Med Genetik 9: 358; Mol Cell Probes 12: 149


COMMENTS:
Cholesterol reduced in B-thal Q39X carriers

AUTHOR:
Graham et al. 1998; Bertolini & Callandra 1998; Thiart & Kotze 1998; Pes et al, 1998

REFS:
e-mail sub 98; e-mail sub 98; EAS 1998:S158; NAR 26:248


AUTHOR:
Kostner et al. 1998; Neely et al. 1998; Graham et al. 1999

REFS:
e-mail sub 98; e-mail sub 98; Atheroscler 147: 309


AUTHOR:
Sun et al. 1997 & 1998; Chae et al. 1997; Ebhardt et al. 1999


AUTHOR:
Marz et al. 1997; Kostner et al. 1997; Loubser et al. 1999

REFS:
Med Genetik 9:358; MEDPED 97 & e-mail sub 98; Clin Genet 55: 340


REFS:
Eur J Clin Invest 28: 740; Clin Genet 55: 332


AUTHOR:
Ekstrom et al. 1998; Freiberger et al. 1998; Nissen et al. 1998


ETHNIC ORIGIN:
Swedish; Slovenian; Arabic (Muslem from Israel)

AUTHOR:
Ekstrom et al. 1998; Reshef et al. 1996 & 1998; Menzel et al. 1999

REFS:
E J Clin Invest 28: 740; Hum Genet 98: 581; e-mail sub 1999


AUTHOR:
Schuster & Humphries 1994; Lombardi et al. 1998


AUTHOR:
Ebhardt & Stuhrmann 1998; Haas et al. 1998; Ebhardt et al. 1999


AUTHOR:
Rampa et al. 1997;Motti et al. 1998; Bertolini et al. 1998

REFS:
Atheroscler S1: S19; Hum Mut #194; EAS 98


AUTHOR:
S.African group 1997; Ekstrom et al. 1998


REFS:
Med Genetik 9:358;Mol Cell Probes 12:149


AUTHOR:
Hattori et al. 1997; Miyake & Yamamura 1998


AUTHOR:
S. African group 1997; Callis et al 1998; Lombardi et al. 1998

REFS:
FH Workshop 97;Mol Cell Probes 12:149:EAS 98


AUTHOR:
Ebhardt et al. 1997; Haas et al. 1998; Ebhardt et al. 1999

REFS:
Med Genetik 9:102;EAS 98; Hum Mut 13:257


AUTHOR:
Schmidt & Kostner 1997; Bertolini & Callandra 1998; Bertolini et al. 1998


AUTHOR:
Vergopoulos et al. 1997; Syrian group 1998


AUTHOR:
Nauck et al. 1997; Nissen et al. 1998; Nauck et al. 1998

REFS:
Atheroscler 134:70; Clin Genet 54:79; e-mail sub 98


AUTHOR:
Sun et al 1997 & 1998; Heath et al. 1999

REFS:
ATVB 17:3092 & Atheroscler 136:175; e-mail sub 1999


AUTHOR:
Haas et al. 1998; Giesel et al. 1998; Ebhardt et al. 1999


MUTATION DETAILS:
Del AGTGCACTCACTCCAGCTGGCG term 49aa downstream


AUTHOR:
Schmidt & Kostner 1997; Pocovi et al. 1998; Mozas et al. 2000


REFS:
Atheroscler 134:68; Am J Hum Genet 61: S:A409


AUTHOR:
Chaves et al. 1997; Lasuncion et al. 1998


AUTHOR:
Kajimami et al 1990; Mabuchi et al. 1990

REFS:
J Intern Med 227:247; Ann NY Acad Sci 598:393


COMMENTS:
Different r.e patterns to previous deletions


MUTATION DETAILS:
1 to 5 G ins in different members of the family


MUTATION DETAILS:
3' splice site abolished; term at 1060+45


MUTATION DETAILS:
A>T at 1068 then inframe ins GAGTGTCAGGATCCCGAC,


MUTATION DETAILS:
Out of frame, term codon 2aa from ex17-14 junction


MUTATION DETAILS:
Out of frame, D333-G33 and term codon after 2aa


REFS:
J Med Genet 35: 573; Hum Mut. mut in brief #392;


REFS:
Clin Genet 48: 23; Clin Chem 42: 1140; Atheroscler 146: 337


REFS:
Clin Genet 58: 98; Personal Communication


MUTATION DETAILS:
1 to 5 G ins in  the same family (Japanese)

AUTHOR:
Amsellem & Benlian 2000; Nobe et al. 1999

REFS:
Personal Communication; Jpn Hearth J 40: 435


AUTHOR:
Shin et al. 2000; Amsellem & Benlian 2000

REFS:
Clin Genet 57: 225; Personal Communication


# POLYMORPHISM DESCRIPTION

AUTHOR:
Saint-Jore et al. 1993;Yamakawa-Kobayashi et al.93


# POLYMORPHISM INCIDENCE

Ethnic group (FH):
Chromosomes from 20 Caucasian USA pedigrees


Ethnic group:
Caucasian chromosomes from 20 USA pedigrees


Ethnic group:
Controls and FH individuals combined from London

Ethnic group (FH):
Individuals (males & females from London


Frequency (normal+):
S.blot, co-digest with EcoRI: 9/5/4/3kb - 0.244

Frequency (normal-):
S.blot, co-digest with EcoRI: 12/5/4kb - 0.756

Frequency (FH+):
S.blot: co-digest with EcoRI: 9/5/4/3kb - 0.197

Frequency (FH-):
S.blot: co-digest with EcoRI: 12/5/4kb - 0.803


Frequency (normal+):
S.blot, co-digest with EcoRI: 9/5/4/3kb - 0.213

Frequency (normal-):
S.blot, co-digest with EcoRI: 12/5/4kb- 0.787


Ethnic group (FH):
Obese Caucasian hypertensives, 61 lean Caucasian hypertensive individuals


Frequency (normal+):
S.blot, codigest with XbaI: 1.7kb - 0.44

Frequency (normal-):
S.blot, codigest with XbaI: 1.9kb - 0.56


Ethnic group:
Non-Hispanic whites  & Hispanic individuals


Ethnic group:
Non-hispanic whites & hispanic individuals


Ethnic group:
Caucasian individuals from 20 USA pedigrees


Frequency (normal+):
S.blot, co-digest with BamHI: 6.6kb - 0.42

Frequency (normal-):
S.blot, co-digest with BamHI: 9.4kb - 0.58


Frequency (normal-):
S.blot: co-digest with BamHI: 9.4/3.8/1.7kb - 0.480

Frequency (FH-):
S.blot: co-digest with BamH: I9.4/3.8/1.7kb - 0.440


Ethnic group (FH):
Obese hypertensive & non-Obese hypertensive


Exon:
Intron 15, 3’end (-27 in the right arm of the 5’Alu sequence of a cluster of 2 tandem Alu sequences)


Frequency (normal+):
S.blot:co-digest with BamHI: 13kb - 0.61

Frequency (normal-):
S.blot: co-digest with BamHI: 17kb - 0.39


Ethnic group:
Caucasian chromosomes from 20 American pedigrees


Ethnic group:
Italian individuals (FH individuals & controls)


Ethnic group:
Caucasian individuals & African American individuals


Field1:
Hobbs et al.92;Lombardi et al,95,97;Jensen etal,96

Author:
Hum Mutat 1:445; J Lipid Res 36:860; Hum Genet 99:106;Clin Chem 42:1140


