Wilson D J, Gahan M, Haddad L, Heath K, Whittall R A, Williams R R, Humphries S E, Day I N
Department of Medicine, University College London Medical School, Rayne Institute, United Kingdom.
Am J Cardiol. 1998 Jun 15;81(12):1509-11. doi: 10.1016/s0002-9149(98)00215-x.
Familial hypercholesterolemia is an autosomal dominant inherited condition characterized by a mutation in the low-density lipoprotein receptor (LDLR) gene. A database has been set up on the World Wide Web for mutations in the LDLR gene.