title: A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.
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.
authors.affiliation: Department of Medicine, University College London Medical School, Rayne Institute, United Kingdom.
authors.forename: D J
authors.initials: DJ
authors.lastname: Wilson
authors.forename: M
authors.initials: M
authors.lastname: Gahan
authors.forename: L
authors.initials: L
authors.lastname: Haddad
authors.forename: K
authors.initials: K
authors.lastname: Heath
authors.forename: R A
authors.initials: RA
authors.lastname: Whittall
authors.forename: R R
authors.initials: RR
authors.lastname: Williams
authors.forename: S E
authors.initials: SE
authors.lastname: Humphries
authors.forename: I N
authors.initials: IN
authors.lastname: Day
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D019992:Databases as Topic; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008490:Medical Informatics; D008969:Molecular Sequence Data; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics*; D014481:United States
chemical_list: D011973:Receptors, LDL