Wilson, DJ and Gahan, M and Haddad, L and Heath, K and Whittal, RA and Williams, RR and Humphries, SE and Day, INM (1998) A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: Sequence-based, tabular, and direct submission data handling. AM J CARDIOL , 81 (12) 1509 - +.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: Sequence-based, tabular, and direct submission data handling |
| Keywords: | NONSENSE MUTATION |
| UCL classification: | UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science |
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