A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling |
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Authors: | DJ Wilson M Gahan L Haddad K Heath RA Whittall RR Williams SE Humphries IN Day |
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Affiliation: | Department of Medicine, University College London Medical School, Rayne Institute, United Kingdom. |
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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. |
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