A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: 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 Day

doi:10.1016/s0002-9149(98)00215-x

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. 1998 Jun 15;81(12):1509-11. doi: 10.1016/s0002-9149(98)00215-x.

Authors

D J Wilson¹, M Gahan, L Haddad, K Heath, R A Whittall, R R Williams, S E Humphries, I N Day

Affiliation

¹ Department of Medicine, University College London Medical School, Rayne Institute, United Kingdom.

PMID: 9645910
DOI: 10.1016/s0002-9149(98)00215-x

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Base Sequence
Databases as Topic
Humans
Hyperlipoproteinemia Type II / genetics*
Medical Informatics*
Molecular Sequence Data
Mutation*
Receptors, LDL / genetics*
United States

Substances

Receptors, LDL