title: Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.
abstract: Familial hypercholesterolemia is caused by mutations in the low density lipoprotein (LDL) receptor gene. Analysis of single-strand conformation polymorphisms of exons 10 and 11 of the LDL receptor gene from familial hypercholesterolemia heterozygotes indicated the presence of two mutations, which were characterized by DNA sequencing. One mutation (delta N466) was a 3-bp deletion in exon 10 that deletes Asn in codon 466. The other (intron 11 +1, G-->T) was a splice donor mutation at position +1 of intron 11.
authors.affiliation: Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway.
authors.forename: T P
authors.initials: TP
authors.lastname: Leren
authors.forename: K
authors.initials: K
authors.lastname: Solberg
authors.forename: O K
authors.initials: OK
authors.lastname: Rødningen
authors.forename: S
authors.initials: S
authors.lastname: Tonstad
authors.forename: L
authors.initials: L
authors.lastname: Ose
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004815:Epidermal Growth Factor / Q000235:genetics; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D008969:Molecular Sequence Data; D009664:Norway / Q000453:epidemiology; D017354:Point Mutation; D011498:Protein Precursors / Q000235:genetics; D011973:Receptors, LDL / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017385:Sequence Homology
chemical_list: D011498:Protein Precursors; D011973:Receptors, LDL; D004815:Epidermal Growth Factor