title: Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family.
abstract: Combined heteroduplex single-strand conformation polymorphism (HEX-SSCP) analysis of the promoter and coding region of the low density lipoprotein receptor (LDLR) gene revealed a novel C to T mutation at nucleotide position 2056 in a Costa Rican patient with heterozygous familial hypercholesterolemia (FH). This nonsense mutation, Q665X, results in a termination codon in the epidermal growth factor (EGF) precursor homology domain of the mature LDLR.
authors.affiliation: Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.
authors.forename: R
authors.initials: R
authors.lastname: Thiart
authors.forename: O
authors.initials: O
authors.lastname: Loubser
authors.forename: J N
authors.initials: JN
authors.lastname: de Villiers
authors.forename: M
authors.initials: M
authors.lastname: Santos
authors.forename: M J
authors.initials: MJ
authors.lastname: Kotze
mesh_terms: D003364:Costa Rica; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL