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).
Update on nomenclature for human gene mutations. Ad hoc committe for nomenclature, 1996. Human Mutation 8:197-202.
Recommendations for a nomenclatrue system for human gene mutations. S.E. Antonarakis and the nomenclature working group, 1998. Human Mutation 11:1-3.
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.
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.
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.
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.
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.
Coordinator for international MEDPED collaborators | Professor Roger Williams | roger@ucvg.med.utah.edu |
Coordinators for this web site | Professor S. Humphries | rmhaseh@ucl.ac.uk |
Managers of this web site | Karen Heath | kheath@hgmp.mrc.ac.uk |
Ros Whittall | rmharaw@ucl.ac.uk |
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)