LDLR Locus - Author List

This page is a list of studies, ordered alphabetically by first named author. Each entry contains a journal reference and links to the mutations mentioned in the study.


[del 3 at -183]
[A>G at 902]
[G>A at 2389+1]


Aalto-Setala et al. 1988 & 1992

FEBS 234:411

[del e16-18, 9.5kb]


Aalto-Setala et al. 1992

J Intern Med 231:227

[del e7-10, 7.5kb]
[del e11-16, 13kb]


Amsellem & Benlian 2000

Personal communication

[G>A at 155]
[G>A at 191-1]
[T>G at 259]
[G>T at 301]
[C>T at 460]
[del 21/ins A at 442]
[G>C at 428]
[G>A at 383]
[T>A at 361]
[T>C at 377]
[ins 4 at 374]
[del G at 518]
[G>A at 523]
[del 7 at 483]
[C>G at 501]
[G>C at 551]
[A>G at 662]
[ins 11 at 683]
[T>C at 664]
[C>A at 693]
[del A at 616]
[C>T at 769]
[G>A at 829]
[del 2 at 931]
[C>G at 939]
[del AG at 882]
[ins T at 875]
[A>G at 1007]
[G>A at 1187-1]
[C>T at 1342]
[del C at 1392]
[T>C at 1495]
[del A at 1456]
[del G at 1530]
[T>C at 1814]
[del 4 at 1716]
[del C at 1751]
[del C at 1737]
[G>A at 1845+1]
[ins 5 at 1951]
[T>G at 1856]
[T>G at 1958]
[ins A at 1934]
[T>C at 1856]
[del 13 at 2030]
[G>T at 2167]
[ins G at 2416]


Amsellem & Benlian 2000 and many more

[C>T at 530]
[C>A at 858]


Amsellem et al. 2000

Personal communication

[T>G at 463]
[T>G at 985]


Arca et al. 1998

e-mail sub 98

[G>A at 551]
[G>A at 518]
[C>T at 593]
[G>A at 806]
[C>T at 907]
[G>A at 970]
[T>C at 1532]
[C>G at 2087]
[G>A at 2441]


Ashavaid et al. 2000

Clin Chem 46: 1183

[ins G at 397]


Assouline et al. 1997

Hum Mut 9: 555

[Ins 7 at 681]
[ins 7 at 681]
[A>G at 1123]
[C>G at 1467]


Baron & Schuster 1997 & 1998

FH workshop 1997

[G>A at 500]


Baron & Schuster 1998

French database 98

[G>A at 518]


Beattie et al. 1998

J Med Genet 35: S1: 14.20

[del A at 931]


Benlian et al. 1997

ATVB 20: e41

[C>T at 97]
[del 2 at 312]
[G>A at 301]
[C>A at 429]
[A>G at 767]
[C>T at 724]
[G>T at 743]
[G>T at 910]
[C>G at 912]
[A>G at 932]
[G>A at 1027]
[C>A at 1008]
[G>A at 1103]
[T>G at 1241]
[C>G at 1323]
[T>C at 1268]
[G>T at 1646]
[C>T at 1763]
[G>A at 1846-1]
[A>C at 1975]
[G>A at 1907]
[T>C at 2045]
[C>A at 2043]
[G>A at 2439]
[ins 4 at 2450]


Benlian et al. 1998

e-mail sub 98

[G>A at 670]
[G>A at 682]


Bertolin et al. 1998

e-mail sub 98

[C>G at 1301]


Bertolini at al. 1992 & 2000

Am J Hum Genet 51: 123

[del e2-12, 24kb]


Bertolini & Callandra 1998

e-mail sub 98

[T>C at 346]
[del 2 at 1374]
[G>T at 1735]
[del G at 1778]
[C>T at 2308]
[G>A at 2389+1]


Bertolini et al.

[T>A at 28]


Bertolini et al, 1999

ATVB 19:408

[ins e16-17, 5.5kb]


Bertolini et al. 1990

ATVB 19:408

[G>A at 1646]


Bertolini et al. 1992

Am J Hum Genet 51: 123

[del e2-12, 24kb]


Bertolini et al. 1994

JLR 35:1422

[ins e9-14, 10kb]


Bertolini et al. 1995

ATVB 15:81

[del e3-10, 12kb]
[del e11-12, 4kb]
[del e13-14, 3.7kb]
[del e13-14, 4.7kb]


Bertolini et al. 1995 & 1997

ATVB 15:81

[del e16, 2kb]


Bertolini et al. 1997

Med Genetik 9: 355

[ins e3-6, 8kb]
[C>G at 1056]
[G>A at 1118]
[T>C at 1135]
[T>A /ins 18 at 1062]
[A>G at 1454]
[G>A at 1646]
[G>A at 1775]
[del e13-18, >25kb]
[G>A at 2000]


Bertolini et al. 1997,98

Med Genetik 9:355

[del e13-15, 5kb]


Bertolini et al.1997 & 1998 and many more

Med Genetik 9:355

[del 2 at 1478]


Bertolini et al. 1997& 1999

Med Genetik 9:355

[G>A at 1586+1]


Bertolini et al. 1997 & 2000

ATVB 19: 408 & 20: e41

[del e13-18, >25kb]


Bertolini et al. 1998

EAS 98

[Ins 4 at 1122]
[del 2 at 1374]
[ins 4 at 1419]


Bertolini et al 1999

ATVB 19:408

[del e3-15]
[C>G at 1056]
[G>A at 1118]
[T>C at 1135]
[A>G at 1454]
[G>A at 2311+1]


Bertolini et al. 2000

ATVB 20: e41

[C>T at 103]
[C>T at 97]
[ins e3-6, 8kb]
[C>T at 304]
[T>C at 265]
[G>T at 301]
[G>T at 352]
[G>T at 418]
[G>A at 415]
[C>G at 402]
[C>T at 373]
[G>T at 401]
[del 22 at 624]
[A>G at 662]
[G>A at 665]
[del 3/ins 6 at 682]
[A>C at 761]
[G>A at 829]
[C>G at 828]
[G>T at 862]
[T>C at 826]
[T>C at 952]
[G>T at 953]
[A>C at 1109]
[G>A at 1846-1]
[del prom -e6, 24kb]


Bertolini et al. 2000 and many more

[G>A at 682]


Binder et al. 1998

Atheroscler 146: 337

[G>T at 337]
[del 12 at 523]
[T>A at 1358+2]


Binder et al. 1998 & more

[G>C at 1329]


Bochkov et al. 1999

e-mail sub 1999

[del G at 226]


Bochmann et al. 2000

Hum Mut Online#392

[T>A at 283]
[T>C at 283]
[C>T at 323]
[ins 12 at 680]
[ins 5 at 662]
[del G at 2167]


Bochmann et el 2000

Hum Mut. mut in brief #392

[del C at 657]


Bourbon et al. 1999

Clin Genet 56: 225

[del G at 736]


Brown & Goldstein 1976

Cell 9:663

[A>G at 2483]


Callis et al. 1998

Mol Cell Probes 12: 149

[C>T at 253]
[C>T at 232]
[G>A at 344]
[del G at 617]
[G>A at 642]
[G>A at 910]
[A>C at 1133]
[C>G at 1284]
[del T at 2092]


Callis et al. 1998 and many more

Mol Cell Probes 12: 149

[C>G at 681]


Canadian group

[G>A at 1195]


Canadian group 1997

MEDPED 98

[G>T at 1195]


Cantafora et al. 1998

ATVB:19:408

[T>C at 1135]
[T>C at 1090]


Cassanelli et al. 1998

[T>A at 28]


Cavanaugh et al. 1994

Hum Mut 4:276

[ins 4 at 1368]
[del 2 at 1478]


Cenarro et al.1996

Clin Genet 49: 180

[G>T at 91]
[del G at 518]
[T>C at 1963]


Cenarro et al. 1997

Hum Mut(online #135) 11: 413

[G>A at 11]


Cenarro et al. 1998

Hum Mut 11:413

[G>A at 12]
[T>G at 283]
[C>G at 274]
[C>T at 460]
[T>C at 346]
[A>G at 662]
[G>T at 661]
[G>A at 829]
[G>A at 905]
[C>A at 1301]
[G>A at 1706-10]
[C>G at 2100]
[del 19 at 2085]
[G>A at 2390-1]


Cenarro et al. 1998 and many more

[G>A at 2000]


Chae et al. 1997

Am J Hum Genet 61: A409

[C>A at 285]
[G>A at 344]
[G>A at 379]
[G>A at 661]
[G>A at 694+1]
[del e7-8, 3.83kb]
[del e9-12, 5.71kb]
[G>A at 1567]
[C>T at 1723]
[G>A at 2140]


Chae et al. 1999

Clin Genet 55: 325

[del 36 at 1591]
[del TG at 1671]
[del 9 at 1600]


Chakir et al. 1997 & 1998

Med Genetik 9:369

[T>G at 478]


Chakir et al. 1998

Mol Genet Metab 63: 31

[T>G at 444]
[G>T at 1252]


Chaves et al. 1997

FH Workshop 97

[G>A at 11]
[A>C at 1]
[ins A at 111]
[C>G at 267]
[G>A at 301]
[G>C at 313+1]
[C>G at 542]
[del 4 at 790]
[ins 4 at 916]
[G>A at 1136]
[C>G at 1301]
[C>T at 1246]
[G>T at 1646]
[del 7/ins 2 at 1698]
[G>A at 1988]
[C>A at 2475]


Chaves et al. 1998

[T>C at 346]
[A>G at 902]


Couture et al. 1998

Hum Mut S1: S226

[T>C at 517]
[C>G at 519]
[T>C at 1102]


Czech group 1998

MEDPED 98

[G>T at 527]
[del C at 896]
[C>G at 917]
[ins 8 at 1060]
[ins 8 at 1669]


Danish group 1997

FH workshop 97

[del e2-5, 2kb]


Davis et al. 1986

Hum Mut 1:445

[A>G at 2483]


Day et al. 1997

Hum Mut 10:116

[C>A at -146]
[C>A at -14]
[del G at 3]
[T>G at 81]
[A>G at 191-2]
[T>G at 259]
[G>A at 261]
[G>A at 268]
[A>G at 269]
[del G at 301]
[C>G at 296]
[C>T at 232]
[G>A at 301]
[G>A at 266]
[G>A at 502]
[G>A at 479]
[del T at 646]
[C>A at 693]
[del AC at 680]
[del 3 at 652]
[del G at 736]
[del 2 at 931]
[G>A at 938]
[C>A at 858]
[C>T at 1048]
[C>T at 1033]
[G>A at 1024]
[G>C at 1049]
[C>T at 979]
[C>A at 1056]
[del 4 at 1116]
[G>A at 1285]
[C>A at 1196]
[C>T at 1246]
[T>C at 1447]
[G>C at 1444]
[ins 4 at 1368]
[C>T at 1576]
[A>C at 1690]
[C>T at 1897]
[complex]
[ins C at 1943]
[C>T at 1946]
[C>A at 2043]
[C>T at 2177]
[del 9 at 2458]


Day et al. 1997 Cenarro et al. 1998

Hum Genet 102: 562

[C>T at 530]


Defesche et al.

Chapter 5

[del e2-10, 22kb]


Defesche et al. 1997

[G>T at -269]
[A>G at 1]
[del 4 at 68-5]
[del e2-10, 22kb]
[T>G at 95]
[G>T at 146]
[A>G at 191-2]
[del e3-8, 10kb]
[ins e3-8, 10kb]
[T>C at 313+2]
[G>C at 313+1]
[G>A at 314-1]
[del e4-6, 5kb]
[T>C at 400]
[C>A at 429]
[C>A at 501]
[del 2 at 646]
[T>C at 765]
[del G at 877]
[A>G at 880]
[del 2 at 933]
[del e7-8, 2.5kb]
[T>G at 1012]
[G>A at 1024]
[C>T at 979]
[G>T at 1004]
[G>C at 1061-8]
[A>G at 1000]
[C>A at 1176]
[C>G at 1301]
[C>A at 1196]
[T>C at 1307]
[C>T at 1246]
[G>A at 1358+1]
[G>A at 1359-1]
[ins e10-12, 5kb]
[G>A at 1567]
[G>T at 1603]
[A>C at 1690]
[C>A at 1688]
[del e13-14, 4kb]
[del 12 at 2032]
[G>A at 2140+5]
[del 5 at 2343]
[G>T at 2389]
[G>T at 2389+1]
[A>G at 2390-2]
[G>A at 2479]
[del 9 at 2395]
[ins 18 at 2406]


Defesche et al.1997 & 1998

FH Workshop 97

[C>A at 666]


Defesche et al. 1997 and many more

FH Workshop 97

[C>T at 1048]


Defesche et al. 1998

MEDPED 98

[G>A at 622]
[T>A at 798]
[del 5 at 796]
[G>A at 796]
[del G at 940]
[del G at 938]
[G>A at 910]
[A>G at 932]
[del e7-10, 6.3kb]
[C>G at 1056]
[T>C at 1061-8]
[G>A at 1069]
[del A at 1085]
[A>G at 1069]
[G>A at 1195]
[G>C at 1329]
[G>T at 1297]
[A>G at 1525]
[del 2 at 1546]
[G>A at 1715]
[A>C at 1794]
[C>T at 1897]
[C>T at 2096]
[del 13 at 2056]


Defesche et al. 1998 & more

e-mail sub 98

[T>C at 550]
[G>A at 1027]


Defesche et al. 2000

Personal Communication

[G>C at 1179]


De Mattei et al. 1997

FH Workshop 97

[ins 4 at 1419]


Descamps et al.

Hum Mut 10:116

[C>T at 2177]


Descamps et al. 1997

Atheroscler 130: S26

[G>T at 91]
[del A at 83]
[G>T at 337]
[C>A at 429]
[ins 4 at 442]
[C>A at 731]
[G>A at 829]
[C>G at 939]
[C>T at 1048]
[del A at 1187-2]
[C>G at 1301]
[G>A at 1775]
[C>T at 1982]
[C>T at 1978]
[G>T at 1864]
[G>A at 2000]


Djordjevic et al 1996

Eur J Biochem 239: 214

[del 6 at 137]


Ebhardt et al. 1997

Med Genetik 9:102-103

[T>C at 313+2]
[C>A at 1341]
[C>G at 1294]
[A>G at 1415]
[C>T at 1747]
[ins G at 2023]


Ebhardt et al. 1999

Hum Mut 13: 257

[G>T at 146]
[ins 2 at 195]
[ins G at 313+1]
[C>G at 519]
[ins G at 553]
[ins 11 at 680]
[G>A at 661]
[G>A at 862]
[C>G at 1294]


Ebhardt & Stuhrmann 1998

NAR 26: 248

[G>A at 862]


Ekstrom et al. 1995

Hum Genet 96: 147

[del 2 at 560]
[G>A at 829]
[G>A at 1586+5]
[del 2 at 1745]
[G>A at 1735]
[T>A at 2001]


Ekstrom et al. 1998

Eur J Clin Investig 28: 740

[del C at 165]
[del G at 554]
[G>A at 622]
[ins G at 785]
[G>A at 1130]
[ins G at 2417]


Ekstrom et al. 1998 & 1999

Eur J Clin Invest 28: 740

[G>T at 782]


Ekstrom et al. 1998 & more

Eur J Clin Investig 28: 740

[C>A at 429]


Ekstrom et al. 1999

Clin Genet 55: 332

[C>A at 564]


Emi et al. 1998

Jpn Heart J 39: 785

[T>A at 223]


Esser et al. 1988

J Biol Chem 263:13276

[G>T at 1694]


Fascetti et al.1997

Athero 135:S12

[G>A at 1567]
[G>A at 1646]
[G>A at 1775]
[G>A at 2000]


Feher et al. 1993

Atheroscler 103:171

[C>T at 1681]


Figueiredo et al 1992

Hum Gen 88:75

[C>A at 2043]


Freiberger et al. 1998

e-mail sub 98

[ins G at 2417]


Fumeron et al. 1992

N Engl J Med 326:69

[del e1, >15kb]


Garuti et al. 1996

Atheroscler 121

[del e1-2, 20kb]


Garuti et al. 1996 & 1997

Atheroscler 121:105 and FH workshop 1997

[del 11 at 1439]


Garuti et al. 1997

Atheroscler 134:67

[T>A at 28]
[C>T at 103]
[C>T at 97]
[C>T at 304]
[T>C at 265]
[G>T at 352]
[C>G at 402]
[G>T at 401]
[G>A at 665]
[G>A at 682]
[A>C at 761]
[G>T at 862]
[T>C at 952]
[C>G at 1056]
[G>T at 953]
[G>A at 1118]
[T>C at 1135]
[T>C at 1090]
[T>A /ins 18 at 1062]
[del A at 1067]
[A>G at 1244]
[ins 4 at 1419]
[A>G at 1454]
[G>A at 1586+1]
[G>T at 1694]
[C>A at 1790]
[G>A at 1846-1]
[G>A at 2311+1]
[A>G at 2483]


Garuti et al. 1997 & 1998

FH Workshop 97

[T>A at 1463]


Garuti et al.1997 and many more

[G>A at 1567]


German group

FH Workshop 97

[T>G at 523]


German group 1997

FH Workshop 97

[G>A at 245]
[G>T at 796]
[A>T at 820]
[G>T at 1091]
[del G at 1302]
[Ins C at 1428]
[C>T at 2053]
[A>G at 2548]


German group 1998

MEDPED 98

[T>G at 534]
[del 7 at 1782]


Giesel et al. 1995

Hum Genet 96: 301

[ins 8 at 533]
[del G at 652]
[C>G at 681]
[G>T at 661]
[G>T at 682]
[del 5, ins 6]
[A>T at 671]
[ins 18 at 681]
[del 37 at 651]
[del 3 at 652]


Giesel et al. 1998

Clin Chem Lab Med 36: 279

[ins 2 at 195]
[G>A at 224]
[G>A at 301]


Ginnochio et al. 1997

Atheroscler 133:273

[T>A at 28]
[C>G at 402]
[G>T at 401]
[G>A at 665]
[G>T at 862]
[T>C at 1090]
[del A at 1067]
[A>G at 1244]
[ins 4 at 1419]


Ginocchio et al. 1997

Atheroscler 133: 273

[del 3/ins 6 at 682]


Gorski et al. 1998

[C>T at 530]
[del 3 at 652]
[del AG at 935]
[del e7, 1kb]
[C>A at 1056]
[A>G at 1691]
[del 4 at 2046]
[del A at 2552]


Graham et al. 1998

e-mail sub 98

[del G at 1185]
[del G at 1778]


Graham et al. 1999

Atheroscler 147: 309

[G>T at 311]
[ins A at 319]
[G>A at 266]
[G>A at 551]
[A>G at 662]
[C>A at 693]
[del AC at 680]


Gudnason et al. 1993

ATVB 13: 56 & 15: 2176

[C>T at 530]
[C>A at 693]
[del AC at 680]
[del 3 at 652]


Gudnason et al. 1994

ATVB 14:1717

[A>G at 662]
[G>T at 682]


Gudnason et al. 1997

Hum Mut 10:36

[T>C at 694+2]


Gudnason et al. 1998

Atheroscler 136:175

[G>A at 1618]


Gudnasun et al. 1993

ATVB 13: 56

[del 2 at 694]


Gunderson et al. 1996

Clin Genet 49: 85

[G>T at 502]
[A>G at 1097]


Haas et al.1998

EAS 98

[G>A at 139]
[G>T at 146]
[ins 2 at 195]
[ins 8 at 533]
[ins G at 558]
[ins 11 at 680]
[G>A at 862]
[C>G at 1294]
[G>A at 1247]
[A>C at 1690]


Hass et al. 1998

EAS 1998

[ins G at 313+1]


Hattersley et al. 1998

e-mail sub 98

[G>T at 799]


Hattori et al. 1997

Atheroscler 134:68

[T>C at 1207]
[G>A at 1291]
[G>A at 2140]
[ins T at 2035]


Hattori et al. 1997 & 1999

Atheroscler 134: 68

[ins C at 1689]


Hattori et al. 1999

Hum Mut 14: 87

[del 7 at 355]
[ins 21at 681]
[T>A at 1012]


Heath et al, 1998

e-mail sub 98

[T>C at 694+2]


Heath et al, 1998 and many more

[C>T at 2177]


Heath et al. 1998

e-mail sub 98

[G>A at 326]
[G>C at 420]
[del 3 at 648]
[del 3/ins 14 at 680]
[del 3 at 651]
[T>A at 708]
[G>T at 772]
[del 7 at 925]
[ins 4 at 1121]
[T>C at 1436]
[ins 4 at 1374]
[G>C at 1474]
[C>G at 1467]
[G>C at 1694]
[C>T at 1823]
[G>T at 2000]
[G>A at 2389+1]
[del G at 2417]


Heath et al. 1998 & 1999

e-mail sub 98

[del 5/ins A at 1715]


Heath et al. 1999

Atheroscler 143: 41

[del A at 118]
[G>A at 139]
[T>G at 259]
[A>G at 269]
[C>G at 267]
[del A at 353]
[C>A at 501]
[T>C at 722]
[G>A at 818-1]
[del e6-13,10.3-11.2k]
[ins e7-18, >20kb]
[C>T at 979]
[ins e8-10,2.6-6kb]
[del 8 at 1056]
[A>G at 1061]
[G>A at 1444]
[ins A at 1802]
[T>A at 2041]
[ins 7 at 2114]
[G>C at 2140+1]
[ins e14-17,12.3-15.2]
[del A at 2292]


Heath et al. 1999 and many more

[del 3 at 652]


Heath et al. 1999 & many more

[G>A at 301]


Heath et al 2001

Eur J Hum Genet 9:244

[del 2/ins 2 at 324]
[C>G at 1022]
[ins e8-10]
[G>T at 1833]
[del e3-5/ins e8-17]


Henderson et al. 1987

Hum Genet 80:371

[del e7-8, 2.5kb]


Henderson et al. 1988

Hum Genet 80:371

[ins e3-5, 7kb]


Hirayama et al. 1998

J Hum Genet 43: 250

[C>A at 285]
[G>A at 1136]
[C>T at 1822]
[ins G at 1778]
[del T at 1963]


Hobbs et al. 1987 & 1992

Hum Mut 1:445

[del e1, >15kb]


Hobbs et al. 1988

JCI: 81:909

[ins e7-12, >5kb]
[del e13-14, 3.7kb]
[del e15-18,10.5kb]
[complex, >5kb]


Hobbs et al. 1988 & 1992

JCI 81:909

[del e1, 6kb]


Hobbs et al. 1989

JCI 84: 656

[C>T at 530]


Hobbs et al. 1990

Ann Rev Genet 24: 133

[C>T at 97]
[del 3 at 652]
[G>A at 910]
[ins 4 at 1121]
[G>A at 1291]
[G>A at 1646]
[G>A at 1637]


Hobbs et al. 1990 & 1992

Ann Rev Genet 24:133

[ins e3-5, 7kb]
[del e5, 0.8kb]
[del e17-18, >10kb]


Hobbs et al. 1992

Hum Mut 1:445

[del e1-6, >25kb]
[C>G at -135]
[C>T at -137]
[del 3 at -183]
[G>A at 11]
[G>A at 12]
[G>A at 13]
[del C at 7]
[del e2-3, 5kb]
[del e2-12, 24kb]
[del e2-3, 10kb]
[del e2-6, 9.5kb]
[del e2-3,5kb]
[ins e2-8, 14kb]
[del e2-6, 10kb]
[del e2-3?4, 12kb]
[del e2-12, 24kb]
[del C at 97]
[del G at 99]
[del G at 172]
[G>A at 155]
[G>A at 131]
[T>G at 81]
[del e3-8, 11kb]
[del e3-6, 9kb]
[C>T at 304]
[A>G at 269]
[del e4-6, 5kb]
[del 2 at 313+1]
[T>C at 325]
[G>T at 337]
[del 4 at 382]
[G>T at 418]
[G>A at 418]
[T>G at 463]
[G>C at 502]
[T>C at 517]
[A>G at 671]
[G>A at 670]
[C>G at 681]
[A>G at 662]
[T>C at 676]
[G>T at 682]
[G>C at 682]
[G>A at 622]
[G>T at 590]
[G>A at 590]
[G>A at 682]
[ins 21at 681]
[del e5, 0.7kb]
[del e5, 1kb]
[G>A at 809]
[T>A at 798]
[G>A at 718]
[A>G at 767]
[C>T at 724]
[G>T at 743]
[C>T at 917]
[C>A at 939]
[C>G at 912]
[del 7 at 925]
[C>A at 858]
[del e7-14, 10/11kb]
[del e7-10, 7.5kb]
[del e7, 1kb]
[ins e7-8, 4kb]
[del e7-14, 12kb]
[del e7-8, 4kb]
[del e7-8, 2.5kb]
[G>A at 1027]
[C>G at 1026]
[G>A at 1003]
[C>A at 1008]
[G>A at 953]
[G>A at 1069]
[T>C at 1135]
[T>C at 1090]
[C>T at 1075]
[A>T at 1061]
[G>A at 1055]
[A>G at 1061]
[del e9-10, 2kb]
[ins e9-12, 4.4kb]
[G>C at 1329]
[C>G at 1323]
[C>A at 1301]
[G>A at 1222]
[T>A at 1322]
[G>A at 1470]
[G>A at 1432]
[A>G at 1454]
[C>T at 1576]
[G>A at 1567]
[del e11-16, 13kb]
[del G at 1607]
[G>T at 1694]
[G>A at 1731]
[T>C at 1796]
[G>A at 1775]
[ins GTC at 1734]
[G>A at 1735]
[T>C at 1845+2]
[G>A at 1845+1]
[G>A at 1846-1]
[del e13-14, 4.5kb]
[ins e13-15, 7kb]
[del e13-14, 3.7kb]
[del e13-14, 4kb]
[del e13-15, 4.5kb]
[G>A at 2000]
[del T at 2092]
[T>C at 2045]
[C>T at 2032]
[T>C at 2029]
[del C at 2012]
[del e15, 6kb]
[del e15, 6kb]
[del e15-18,10.5kb]
[C>T at 2177]
[ins e16-17, 5.5kb]
[del e16-17, 4kb]
[del e16, 0.4kb]
[del e16-18, 5.5kb]
[del e16-18, 7.8kb]
[del e16-18, 9.5kb]
[A>T at 2374]
[del e17, 2kb]
[del e17, 0.4 kb]
[A>G at 2483]
[G>A at 2479]
[G>A at 2439]
[ins 4 at 2450]


Hopkins et al. 1999

J Hum Genet 44: 364

[C>T at 631]


Horsthemke et al. 1987

J Med Genet 24:144

[del e5, 0.7kb]
[del e7, 1kb]
[del e13-14, 4kb]


Iwata et al. 1997

Atheroscler 134: 69

[del 7 at 355]
[Ins C at 389]
[ins 18 at 681]
[ins 21at 681]
[T>A at 1012]
[del 9/ins 6 at 1115]
[G>A at 1599]
[C>G at 1702]
[del 21 at 2320]


Jensen et al. 1995

FH Workshop 97

[G>A at 1586+5]


Jensen et al. 1995, 1996 & 2000

Clin Genet 48: 23

[del 10 at 335]


Jensen et al. 1996

Hum Mut 7:82

[C>T at -136]
[G>A at 131]
[G>A at 313+1]
[T>C at 1061-8]
[del 2 at 1478]
[del G at 1650]
[G>A at 1846-1]


Jensen et al. 1996 & 1997

Clin Chem 42:1140

[A>C at 1210]
[G>C at 1730]
[G>A at 1735]


Jensen et al. 1997

Hum Mut 9:437

[G>T at 313+1]
[G>T at 337]
[C>A at 1104]
[T>A at 1448]
[A>C at 1690]
[G>A at 1705+1]
[C>T at 1828]
[A>T at 1786]
[C>T at 2177]
[C>G at 2475]
[G>A at 2439]
[del 9 at 2395]


Jensen et al. 1997 & 1999

FH workshop 97

[T>A at 1451]


Jensen et al. 1999

Ather 146: 337

[G>A at 131]
[G>T at 337]
[G>A at 514]
[G>A at 642]
[T>C at 727]
[C>T at 917]


Jensen et al. 1999 & many more

Atheroscler 146: 337

[G>A at 418]


Kajimami et al. 1988

Hum Genet 86:359

[ins e13-15, 7kb]


Kajimami et al 1990

J Intern Med 227:247

[del e7-14, 13kb]
[del e7-14, 12kb]


Kajimami et al. 1991

Circulation SII:278

[del e2-3, 10kb]
[del e2-3?4, 12kb]


Katsumata et al. 1999

Jpn Heart J 40: 443

[C>T at 370]


Khoo et al. 2000

Clin Genet 58:98

[del GA at 77]
[G>A at 268]
[G>A at 344]
[C>T at 757]
[G>A at 829]
[G>A at 986]
[G>C at 1179]
[C>T at 1132]
[G>A at 2050]
[ins 7 at 2114]
[G>A at 2087]


King-Underwood et al. 1991

Clin Genet 40:17-28

[C>T at 2054]


Kobalska et al. 1997

[G>A at 2000]


Kobalska et al. 1997 and many more

FH Workshop 97

[G>A at 1775]


Koivisto et al. 1992

JCI 90:219

[del 7 at 925]
[del e13-15, 4.5kb]


Koivisto et al. 1993

Ann Med 24:363

[del e15, 6kb]


Koivisto et al. 1994

PNAS 104:10526

[C>T at -136]


Koivisto et al. 1995

Am J Hum Genet 57: 789

[G>T at 301]
[del 13 at 325]
[G>T at 661]
[G>A at 665]
[G>A at 915]
[G>A at 1186]
[T>A at 1202]
[C>A at 1335]
[G>A at 1432]
[G>A at 2531]


Koivisto et al. 1996

Hum Mut 8:326

[del13/ins17 at 1640]


Koivisto et al. 1997

ATVB 17:1392

[C>G at 768]
[del e14-15, 5kb]


Kontula et al. 1992

Ann Med 24:363

[del e7-10, 7.5kb]
[del e11-16, 13kb]
[del e13-15, 4.5kb]


Kostner et al. 1997

MEDPED 97 & e-mail sub 98

[G>A at 148]


Kostner et al. 1998

e-mail sub 98

[A>C at 161]
[G>T at 311]
[G>A at 314-1]
[C>G at 1061+10]


Kotze et al. 1989

S Afr Med J 76: 399

[G>A at 1171]
[G>A at 1285]


Kotze et al. 1993

[del e13-15, 4.5kb]


Kotze et al. 1995

Hum Mut 6: 181

[dupl 18 at 678]
[ins 18 at 678]


Kotze et al. 1996

Hum Genet 98: 476

[Ins 8 at 681]


Kotze et al. 1997

Clin Genet 51: 394

[G>T at 268]
[C>T at 232]
[G>A at 418]
[G>T at 661]
[ins 18 at 681]
[C>T at 1150]
[C>G at 1158]
[C>G at 1215]
[A>T at 2357]


Kotze et al. 1998

Clin Genet 54:74&57:116

[G>A at 523]
[C>G at 681]
[G>A at 682]


Kubalska et al. 1997

FH Workshop 97

[C>A at 1056]
[C>T at 2056]
[del 4 at 2046]
[del A at 2552]


Kuhrova et al. 1997

Hum Mut S1: S327

[C>T at 1246]


Kuhrova et al. 1998

Hum Mut S1:S327

[A>G at 1552]


Kuhrova et al. 1999

FH Workshop 97

[del G at 970]
[ins 96 at 1272]
[del C at 2068]


Landsberger et al. 1992

Am J Hum Genet 50: 427

[C>G at 564]


Langenhoven et al. 1996

Atheroscler 125:111

[A>T at 1]
[C>A at 1176]


Langlois et al. 1988

Am J Hum Genet 43:60

[del e2-6, 9.5kb]
[del e2-6, 10kb]
[del e3-8, 11kb]
[del e4-6, 5kb]
[del e13-14, 4.5kb]
[del e15, 6kb]
[del e17, 0.4 kb]


Lasuncion et al. 1998

EAS 1998

[T>C at 346]
[A>G at 902]
[G>T at 1646]
[C>A at 2475]


Lee et al. 1998

J Med Genet 35: 573

[G>A at 551]
[G>A at 502]
[del C at 510]
[del C at 657]
[G>T at 682]
[C>A at 693]
[G>A at 656]


Lehrman et al. 1985

Science 227:140

[del e16-18, 5.5kb]
[G>A at 2439]
[ins 4 at 2450]


Lehrman et al. 1987

Cell 48:827

[ins e2-8, 14kb]
[C>A at 2043]
[del e16-18, 7.8kb]


Leitersdorf et al. 1988

PNAS 85: 7912

[del 6 at 137]


Leitersdorf et al. 1990

JCI 85:1014

[del e1, >15kb]
[T>G at 259]
[G>A at 682]


Leitersdorf et al. 1992

JCI 85:1014

[del e2-3, 5kb]


Leitersdorf et al. 1993

Hum Genet 91: 141

[G>C at 502]


Lelli et al. 1991

Arterioscler Thromb 11:234

[del e1-6, >25kb]
[del e13-14, 3.7kb]
[del e15-18,10.5kb]
[ins e16-17, 5.5kb]


Lelli et al. 1994

Hum Genet 93: 538

[G>T at 953]


Lelli et al. 1995

JLR 36:1315

[G>A at 2311+1]


Leren et al. 1993

Hum Genet 92:6

[G>A at 1470]


Leren et al. 1994

Atheroscler 111: 175

[C>G at 296]
[G>A at 313+1]


Leren et al. 1995

Hum Genet 96

[G>A at 1686]


Leren et al. 1995 & 1997

Hum Genet 96: 241

[G>T at 1705+1]


Leren et al. 1997

J Intern Med 241: 185

[T>C at 166]
[C>A at 465]
[T>G at 463]
[G>T at 502]
[G>T at 523]
[A>G at 662]
[T>G at 691]
[G>T at 682]
[G>T at 1078]
[A>G at 1097]
[C>G at 1201]
[C>T at 1246]
[del 3 at 1459]


Leren et al. 1997 and many more

FH Workshop 97

[G>A at 1470]


Lind et al. 1998

J Intern Med 244:19

[C>G at 296]
[del 2 at 823]
[G>A at 938]
[del 7 at 925]
[C>A at 888]
[del e16-18, 9.5kb]


Lombardi et al, 1998

[G>T at 1297]


Lombardi et al. 1993

Atheroscler 104:117

[A>G at 2390-2]


Lombardi et al. 1995

JLR 36:860-867

[T>C at 313+2]
[G>C at 313+1]
[G>A at 313+1]
[C>A at 429]
[C>T at 530]
[C>A at 501]
[del 2 at 646]
[C>T at 917]
[del G at 938]
[G>A at 1567]
[G>T at 1603]


Lombardi et al. 1997

Clin Genet 51: 430

[A>G at 1]
[del e4-6, 5kb]
[T>C at 400]
[del 2 at 933]
[T>G at 1012]
[C>G at 1056]
[G>A at 1024]
[T>C at 1307]
[C>A at 1688]
[del 12 at 2032]
[G>A at 2140+5]
[G>T at 2389]
[G>T at 2389+1]
[ins 18 at 2406]


Lombardi et al.1997 & 2000

Atheroscler 130:S14

[A>G at 880]
[G>T at 1004]
[del 5 at 2343]


Lombardi et al. 1998

[T>G at 95]
[A>G at 191-2]
[ins e3-8, 10kb]
[del e4-6, 5kb]
[G>A at 622]
[T>A at 798]
[del 5 at 796]
[G>A at 796]
[G>A at 910]
[A>G at 932]
[del e7-10, 6.3kb]
[del e7-8, 4kb]
[del e7-8, 2.5kb]
[G>A at 970]
[C>T at 979]
[T>C at 1061-8]
[G>A at 1069]
[A>C at 1151]
[C>A at 1176]
[del A at 1085]
[A>G at 1069]
[ins e9-12, 4.4kb]
[C>A at 1196]
[C>G at 1284]
[G>A at 1291]
[C>T at 1246]
[G>A at 1358+1]
[G>A at 1359-1]
[ins e10-12, 5kb]
[A>G at 1525]
[T>C at 1549]
[del 2 at 1546]
[ins e11, 7kb]
[ins C at 1645]
[G>A at 1715]
[A>C at 1794]
[del e13-14, 4kb]
[C>T at 1897]
[C>T at 2096]
[del 14 at 2050]
[del e16, 0.4kb]
[G>A at 2479]
[del 9 at 2395]


Lombardi et al. 2000

Clin Genet 57: 116

[G>T at 146]
[G>A at 131]
[T>C at 400]
[T>G at 463]
[G>A at 523]
[C>A at 501]
[C>A at 666]
[C>T at 757]
[T>C at 765]


Lombardi et al. 2000 and many more

[G>T at 682]
[C>T at 917]


Loubser et al.1998

Journal sub 98

[T>G at 1154]


Loubser et al. 1999

Clin Genet 55: 340

[T>C at 28]
[G>A at 148]
[C>T at 241]
[C>T at 232]
[del TC at 369]
[A>C at 671]
[T>G at 691]
[G>A at 682]


Loux et al. 1991

Hum Mut 1:325-332

[G>A at 1103]
[G>A at 2439]


Loux et al. 1991 & 1992

Hum Genet 87: 373

[A>G at 932]


Loux et al. 1992

Hum Mut 1: 325

[C>T at 97]
[G>A at 301]
[G>T at 910]
[G>T at 1646]


Mabuchi et al. 1990

Ann NY Acad Sci 598:393

[del e7-14, 13kb]
[ins e13-15, 7kb]


Ma et al. 1989

Clin Genet 36:219

[del e2-3, 5kb]


Mak et al. 1998

ATVB 18: 1600

[G>A at 268]
[A>T at 364]
[C>T at 571]
[G>A at 682]
[G>A at 986]
[T>C at 1277]
[G>A at 1285]
[T>G at 1241]
[G>A at 1432]
[G>A at 1474]
[G>T at 1706-1]
[del C at 1779]
[G>A at 1879]
[C>T at 1880]
[G>T at 2030]
[G>A at 2389]


Mandelshtam et al. 1993

Hum Mut 2:256

[del e4-6, 5kb]


Mandelshtam et al. 1998

Mol Genet Metab 65: 311

[del GCC at 347]


Maruyama et al. 1995

ATVB 15: 1713

[G>A at 418]
[T>A at 1012]
[T>C at 1845+2]
[A>T at 2431]


Maruyama et al. 1995 and many more

PNAS 86:4166-4170

[C>T at 2054]


Maruyama et al. 1997

Hum Mut Online #139

[G>A at 314-1]


Maruyama et al. 1998

Hum Mut 11:480

[G>C at 68-1]


Marz et al. 1997

Med Genetik 9:369

[T>C at 28]
[G>A at 148]
[ins G at 558]
[del G at 617]
[T>G at 691]
[C>T at 757]
[G>A at 941-4]
[A>C at 1133]
[T>G at 1154]
[C>T at 1150]
[G>A at 1217]
[G>A at 1247]
[A>G at 1954]
[del T at 2092]
[G>A at 2441]


Marz et al. 1998

Med Genetik 9:358

[G>C at 1329]


Mavroides et al. 1997

Hum Mut 9: 274

[del G at 3]
[A>G at 902]


Mavroidis et al. 1997

Hum Mut 9: 274

[T>C at 517]
[C>A at 939]
[C>A at 858]


MEDPED USA 1998

[A>C at 1690]


Menzel et al. 1999

e-mail sub 1999

[del G at 554]
[T>G at 664]
[G>A at 1432]


Miltiadous et al. 2000

Hum Mut 16: 277

[T>C at 1352]


Miyake et al.

Eur. J. Biochem. 210:1

[G>C at 1297]


Miyake et al. 1989

JBC 264:16584

[del e7-14, 12kb]


Miyake & Yamamura 1998

NAR 26:248

[G>A at 139]
[T>C at 1012]
[G>C at 1078]
[T>C at 1207]
[G>A at 1784]


Morash et al. 1998

Atheroscler 136: 9

[C>G at 519]


Motti et al. 1998

Hum Mut #194

[Ins 4 at 1122]


Mozas et al. 2000

Hum Mut (online#326) 15: 483

[del G at 211]
[C>A at 828]
[del A at 1046]
[G>C at 1845+1]
[ins T at 2207]


Nauck et al. 1997

[G>T at -269]
[A>G at 1]
[T>G at 259]
[C>G at 519]
[ins 11 at 615]
[G>T at 682]
[C>T at 757]
[C>T at 1720]
[T>G at 2001]
[C>T at 2221]


Nauck et al. 1998

e-mail sub 98

[G>A at 67+1]
[T>A at 427]
[T>C at 400]
[G>C at 420]
[G>A at 385]
[del 5 at 340]
[T>C at 598]
[G>A at 967]
[C>G at 1176]
[T>A at 1358+2]
[A>C at 1874]
[T>A at 1916]
[T>G at 2001]
[T>A at 2417]


Nauck et al. 1998 & 2000

e-mail sub 98

[G>A at 1013]


Neely et al. 1998

e-mail sub 98

[G>T at 311]
[del G at 1233]
[C>T at 1897]


Nissen et al. 1994

Atheroscler 111: 209

[del C at 1335]


Nissen et al.1996

Scand J Clin Lab Invest 56: 75

[G>A at 131]


Nissen et al. 1997

Atheroscler 131:67

[G>C at 1730]
[G>A at 1846-1]
[del T at 2092]


Nissen et al.1998

Clin Genet 53: 433 & 55: 340

[C>T at 241]
[del 2 at 931]
[T>C at 1061-8]
[G>T at 1285]
[T>G at 2001]
[ins G at 2417]


Nobe et al. 1999

Jpn Hearth J 40: 435

[ins G at 2416]


Oppenheim 1991

J.Med.Genet. 29:813

[C>A at 2043]


Patel et al. 1998

JLR 39:1466

[ins e3-6, 8kb]
[ins 18 at 1069]
[T>A /ins 18 at 1062]


Patel et al 1999

J Lip Res 40:213

[ins e3-6, 7kb]


Peeters et al. 1995

Hum Genet 96: 401

[del 23 at 568]
[ins 19 at 483]


Peeters et al. 1997

Journal sub 98

[C>A at 855]
[del e7-8, 3kb]
[del e7-8, 4kb]
[G>A at 1217]
[G>A at 1359-1]
[G>A at 2441]


Peeters et al.1998

JLR 39:1021

[del 3 at -183]
[G>T at 347]
[G>T at 527]
[G>T at 1078]
[C>G at 1257]
[G>C at 1243]
[del 2 at 1840]
[C>T at 1823]
[C>T at 2096]


Peeters et al.1998, Cantafora et al.1998

EAS 98

[C>G at 1056]


Peeters et al. 1998 & more

Journal sub 98

[C>G at 1301]


Peeters et al. 1999

Mol Cell Probes 13: 257

[G>A at 190+1]
[G>T at 2140+1]


Pereira et al. 1995

Ather 130:S26&134:74

[G>A at 829]
[G>A at 1285]
[G>A at 2389]


Pes et al, 1998

NAR 26:248

[del G at 1778]


Pimstone et al. 1997

ATVB 17: 826

[C>A at 501]
[T>C at 550]
[del G at 877]
[C>T at 917]
[A>G at 1000]
[G>A at 1359-1]
[T>A at 1793]
[del 9 at 2395]
[A>G at 2548-2]


Pimstone et al. 1997 and many more

ATVB 17:1392

[G>A at 313+1]


Pimstone et al. 1998

ATVB 18:309&1600&20:e41

[G>A at 682]
[G>A at 1448]


Pocovi et al. 1998

e-mail sub 1998

[del G at 211]
[C>A at 828]
[del C at 1043]


Rampa et al. 1997

Atheroscler S1: S19

[Ins 4 at 1122]


Redeker et al. 1998

EAS 98

[T>G at 95]
[A>G at 191-2]
[G>A at 622]
[T>A at 798]
[del 5 at 796]
[C>T at 979]
[del A at 1085]
[C>A at 1196]
[G>T at 1297]
[A>G at 1525]
[G>A at 1715]
[C>T at 1897]


Reschef et al. 1996

Hum Genet 98:581

[C>T at 1216]
[del 9 at 1567]
[T>A at 2140+2]
[G>A at 2479]


Reshef et al.1996

Hum Genet 98: 581

[G>T at 91]
[G>C at 502]
[C>G at 564]
[G>C at 682]
[G>A at 622]
[del 3 at 652]
[G>A at 1027]
[T>G at 985]
[del A at 1046]


Reshef et al. 1996 & 1998

Hum Genet 98: 581

[del G at 554]


Rodningen et al, 1999

JLR 40:213

[del e2-3, 4.8kb]


Rodningen et al. 1992

J Intern Med 231:227

[del e16-18, 9.5kb]


Rubinsztein et al. 1993

Biochim Biophys Acta 1182: 75

[G>T at 268]
[G>A at 418]
[G>A at 523]


Rudiger et al. 1991

Clin Genet 39:451

[del e3-6, 9kb]
[del e5, 1kb]
[del e17, 2kb]


Russell et al. 1987

Cold Spring Harbor Symp Quart Biol 51:811

[del e7-8, 4kb]


S.African group 1997

FH Workshop 97

[G>T at 1145]
[G>A at 1130]
[C>G at 1284]


Sass et al. 1995

JBC 270:25166

[del e2-3, 5kb]


Schluter & Wick 1994

Clin Genet 45: 84

[del 87 at 704]


Schmidt et al.1997

MEDPED 97

[G>A at 1646]


Schmidt et al. 1998

e-mail sub 98

[T>C at 1054]
[G>A at 1247]


Schmidt et al. 2000

Atheroscler 148: 431

[G>A at 532]
[A>G at 662]
[T>A at 798]
[G>T at 1997]


Schmidt & Kostner 1997

[G>T at -269]
[C>A at 501]
[C>T at 757]
[C>A at 828]
[G>A at 1027]
[G>A at 1061-1]
[A>C at 1061]
[del 2 at 1374]
[G>A at 1474]
[G>A at 1448]
[G>A at 1816]
[G>A at 2023]
[G>A at 1998]
[G>A at 2093]
[G>A at 2140+5]


Scholt et al. 1997

Am J Hum Genet 61:S A412

[C>T at -152]


Scholtz et al. 1997

Am J Hum Genet 61: S:A412

[C>T at -218]


Scholtz et al. 1997 Marz et al. 1997

Am J Hum Genet 61:A412

[G>T at -269]


Scholtz et al. 1999

Hum Mol Genet 8: 2025

[G>A at 772]


Schuster al. 1995

Clin Genet 48:9

[G>A at 1222]


Schuster et al. 1993

Hum Genet 91:287

[G>A at 1285]


Schuster et al. 1994

Clin Invest 72:898

[A>G at 191-2]
[C>T at 917]


Schuster et al. 1995

ATVB 15: 2176

[C>T at 253]
[C>T at 530]
[del 2 at 1478]
[C>T at 2096]
[G>A at 2042]


Schuster et al. 1995 & 1997

ATVB 15: 2176

[T>G at 517]
[del G at 970]
[del 7 at 1783]


Schuster & Humphries 1994

Clin Invest 72:898

[ins e2-5, 14kb]
[G>T at 326]
[G>A at 523]
[G>A at 518]
[C>T at 694+24]
[C>T at 724]
[ins e8-12, 4kb]
[G>A at 1470]
[ins e11, 7kb]
[G>A at 1618]
[del e16-17, 2kb]
[A>C at 2390-2]


Shin et al. 2000

Clin Genet 57: 225

[C>T at 544]
[G>A at 692]
[T>C at 1814]


Sijbrands et al. 1997

Atheroscler 136:247

[ins C at 1645]


Simard et al. 1994

Hum Mol Genet 3

[C>G at 1467]


Slimane et al. 1997

Atheroscler 134:72

[del 3, in 7 at 1493]
[G>A at 1846-1]
[A>C at 1874]


Solberg et al. 1994

Scand J Clin Lab Invest 54:605

[C>T at 1048]


Spanish group 1997

FH workshop 97

[del e1-2, 20kb]
[del prom-e1,18.5kb]
[ins e2-14, 17kb]
[ins e3-4, 3.8kb]
[del e4-6, 4.2kb]


Steyn et al. 1996

Hum Genet 98:479

[G>A at 523]


Sundvold et al. 1996

Hum Mut 7: 70

[T>G at 691]


Sun et al. 1992

Arterio Thromb 12:762

[del e1-6, >25kb]
[del e1-6, >10.5kb]
[del e2-6, 10kb]
[C>A at 693]
[del AC at 680]
[del e7-14, 10/11kb]
[ins e7-8, 4kb]
[del e7-14, 12kb]
[del e7-8, 2.5kb]
[del e15, 6kb]


Sun et al. 1992, 1997 & 1998

ATVB 12:762 & 17:3092

[del e5, 0.7kb]


Sun et al. 1992,97,98

ATVB 12:762,17:3092

[del e7, 1kb]


Sun et al. 1994

Hum Mut 1:445

[del e1, 6kb]
[del e1, >15kb]
[G>A at 11]
[del 3 at 632]
[del e5, 0.8kb]
[G>A at 809]
[G>A at 1448]
[del e11-14, 10kb]
[T>C at 1664]
[C>T at 1747]
[G>A at 1879]
[del T at 2015]
[del C at 2475]


Sun et al. 1995, 1997 & 1998

Hum Mol Genet 95: 2125

[T>C at -138]


Sun et al. 1997

ATVB 17:3092

[T>G at 259]
[T>C at 550]


Sun et al. 1997&1998

ATVB 17: 3092

[G>A at 266]
[G>A at 661]
[del 24 at1008]
[G>A at 1186]
[ins 4 at 1419]
[G>A at 1618]
[C>G at 1823]
[G>T at 1816]
[del e13-14, 4kb]
[T>C at 1855]
[T>C at 1858]
[del G at 1987]
[del T at 2060]
[T>A at 2041]
[G>A at 2231]


Sun et al. 1997 & 1998 & more

ATVB 17:3092 & Atheroscler 136:175

[G>A at 1222]


Sun et al. 1998

Atheroscler 136: 175

[G>A at 326]
[G>T at 682]
[del AC at 680]
[ins 4 at 1415]
[del e13-14, 2kb]


Syrian group 1998

FH Workshop 97

[T>C at 1999]


Szalai et al. 1997

FH Workshop 97

[G>T at 337]
[C>T at 349]


Takahashi et al. 2001

Clin Genet sub 2001

[G>C at 137]


Tashiro et al. 1998

Eur J Clin Invest 28: 712

[del 2 at 2199]


Taylor et al. 1989

J Med Genet 26:494

[del e9-10, 2kb]


Theart et al. 1995

J Med Genet 32: 379

[del 7 at 582]


Thiart et al. 1998

Hum Mut S1: S232

[ins G at 558]
[G>A at 1217]
[G>A at 1247]
[C>T at 2056]
[G>A at 2441]
[del A at 2552]


Thiart et al. 2000

J Med Genet 37: 514

[del 6 at 137]
[G>C at 514]
[del 2 at 1204]


Thiart & Kotze 1998

EAS 1998:S158

[del G at 1778]
[G>A at 2389]


Thiart & Kotze et al. 1998

French database 198

[T>C at 482]


Top et al. 1990

Atheroscler 83:127

[del e1-6, >25kb]
[ins e7-12, 7kb]
[del e7-8, 4kb]
[ins e9-12, 4.4kb]
[del e16, 0.4kb]


Top et al. 1993

Hum Genet 91:480

[G>A at 1358+1]


Toutouza et al. 1997

Atheroscler 134: 73

[del 6 at 137]
[G>A at 523]


Traeger-Synodinos et al 1997

FH Workshop 97

[G>A at 1646]


Tricot-Guerber et al. 1995

Hum Mut 6:87& 9:437&10:116

[A>C at 1690]


Uauy et al. 1991

J Clin Endocrinol Metab 72: 179

[del 4 at 382]


Vallve et al. 1997

ATVB 20:e41

[G>A at 829]


Vallve et al. 1997 & 1998

Atheroscler 134: 74 & 140: 191 & 147: 309

[C>A at 519]


van der Westhuyzen et al. 1991

Biochem J 278:677

[del e7-8, 2.5kb]


van der Westhyyzun et al. 1984

Arterioscler 4:238

[G>A at 986]
[T>G at 1241]


van Wingerden et al. 1981

S.African Med J 60: 554

[del G at 172]


Varret 1998

French Database

[del G at 2316]


Vergopoulos et al. 1997

Eur J Hum Genet 5:315

[T>C at 1999]


Vergopoulos et al. 1998

Hum Mut submitted

[T>C at 550]
[G>A at 827]
[del 1 at 1172]


Vohl et al. 1997

Clin Genet 52:1

[T>G at 259]


Vuori et al. 1997

ATVB 17:3127

[del 7 at 925]


Vuorio et al. 1997

Clin Genet 51: 191

[C>T at 313]


Ward et al. 1995

Hum Mut 6:254

[G>A at 1444]
[T>C at 1447]


Ward et al. 1996

Atheroscler 120: 83

[del G at 211]


Ward & Graham 1997

FH Workshop 97

[del A at 931]
[A>T at 1168]


Ward & Graham 1999

[C>A at 519]


Webb et al. 1992

JLR 33:689

[G>A at 301]


Webb et al. 1996

JLR 37:368

[del e1-6, >10.5kb]
[del e2-6, 10kb]
[A>G at 269]
[T>C at 589]
[ins 18 at 681]
[ins 21at 681]
[G>A at 743]
[A>C at 902]
[C>G at 906]
[C>A at 939]
[C>G at 912]
[C>A at 858]
[G>C at 1049]
[G>A at 1222]
[d 9/ins 5 at 1359-23]
[G>A at 1444]
[C>T at 1681]
[T>C at 1796]
[del C at 2012]
[del A at 2292]


Williams et al. 1998

MEDPED 1998

[T>G at 81]


Wilson et al. 1998

e-mail sub 98

[C>T at 251]
[del 4 at 308]
[del G at 235]


Wu et al. 2000

J Hum Genet 45: 154

[G>A at 337]


Xenophontos et al. 2000

[C>A at 939]


Yamakawa et al 1989

Hum Genet 82:317

[del e2-3,5kb]
[del e16-17, 4kb]


Yamakawa & Kobayashi et al. 1993

Hum Genet 92:331

[ins 5 at 1246]
[del T at 1655]


Yamakawa-Kobayashi et al. 1994

Hum Genet 93: 625

[del 9/ins 6 at 1115]


Yamamoto et al. 1986

Science 232: 1230

[del 12 at 408]


Yu et al. 1999

Atheroscler 146: 125

[G>C at 1061-1]