title: Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.
authors.affiliation: Laboratoire de Biochemie A, CHUG, Grenoble, France.
authors.forename: F
authors.initials: F
authors.lastname: Tricot-Guerber
authors.forename: B
authors.initials: B
authors.lastname: Saint-Jore
authors.forename: K
authors.initials: K
authors.lastname: Valenti
authors.forename: T
authors.initials: T
authors.lastname: Foulon
authors.forename: M
authors.initials: M
authors.lastname: Bost
authors.forename: A J
authors.initials: AJ
authors.lastname: Hadjian
mesh_terms: D005091:Exons; D005602:France; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL