Acknowledgements and Links

This collation was made by Karen Heath, Ros Whittall, Darren Wilson, Ian Day Sandra O'Dell and Lema Haddad in the Division of Cardiovascular Genetics (Professor Steve Humphries), Department of Medicine, University College London Medical School, The Rayne Institute, 5 University Street, London WC1E 6JJ, UK.

Initial funding for development of this research and diagnostic resource was from Merck, in association with the MEDPED FH program (Roger Williams, Salt Lake City, USA).


Anne Soutar and colleagues, MRC Lipoprotein Team, Hammersmith Hospital. London, UK; Joep Defesche and colleagues, Amsterdam, Holland; Henrik Jensen, Peter Hansen, Aarhus, Denmark; Henrik Nissen, Mogens Horder, Odense, Denmark; Alana Ward, Colin Graham, Ian Young, Belfast, N.Ireland; Pascal Benlian, Paris, France; Maritha Kotze, Stellenbosch, South Africa; Herbert Schuster, Berlin, Germany; Ulf Ekstrom, Sweden; Trond Leren and colleagues, Oslo, Norway; Villi Gudnason, Iceland; Nikos Mavroides, Jan Traeger-Synodinos, E Kanavakis Athens, Greece; Roger Williams, Paul Hopkins, Salt Lake City, USA; Eran Leitersdorf, Israel.

Useful References:

  1. A suggested nomenclature for designating mutations. A.L.Beaudet and L-C.Tsui, 1993. Human Mutation 2:245-248.
  2. Update on nomenclature for human gene mutations. Ad hoc committe for nomenclature, 1996. Human Mutation 8:197-202.

  3. Recommendations for a nomenclatrue system for human gene mutations. S.E. Antonarakis and the nomenclature working group, 1998. Human Mutation 11:1-3.

  4. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. H.H.Hobbs, M.S.Brown, J.L.Goldstein, 1992. Human Mutation 1:445-466.

  5. Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolaemia. I.N.M Day, R.A.Whittall, S.D.O’Dell, L.Haddad, M.K.Bolla, V.Gudnason, S.E.Humphries, 1997. Human Mutation 10:116-127.

  6. A world wide website for LDLR gene mutations in FH: sequence-based, tabular, and direct submission data handling. D.J.Wilson, M.Gahan, L.Haddad, K.Heath, R.A Whittall, R.R.Williams, S.E.Humphries, I.N.M.Day, 1998. Am J Cardiol 81:1509-1511.

  7. Software and database for the analysis of mutations in the human LDL-receptor gene. M.Varret, J-P Rabes, G.Collod-Beroud, C.Junien, C.Boileau, C.Beroud, 1997/ NAR 25:172-180.

  8. LDLR database (second edition): new additions to the database and the software, and results of the first molecular analysis. Varret et al. 1998. NAR 26:248-252.


Academicians and clinicians involved with FH research


MEDPED is sponsored by family organisations, government, heart associations and Merck Human Health.

This web site was/is sponsored by :

British Heart Foundation (S.E. Humphries, D.W. Wilson)
Lister Institute (I.N.M. Day)
• John Pinto Foundation (K.E. Heath)

Links to Other Information Sources