title: A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects.
authors.affiliation: Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway.
authors.forename: H
authors.initials: H
authors.lastname: Sundvold
authors.forename: K
authors.initials: K
authors.lastname: Solberg
authors.forename: S
authors.initials: S
authors.lastname: Tonstad
authors.forename: O K
authors.initials: OK
authors.lastname: Rødningen
authors.forename: L
authors.initials: L
authors.lastname: Ose
authors.forename: K
authors.initials: K
authors.lastname: Berg
authors.forename: T P
authors.initials: TP
authors.lastname: Leren
mesh_terms: D001483:Base Sequence; D005091:Exons; D006580:Genetic Carrier Screening; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009664:Norway; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL