title: [A case of familial hypercholesterolemia caused by a novel mutation p. FsS65:D129X of human low density lipoprotein receptor gene].
abstract: Novel mutation p. FsS65:D129X in human low density lipoprotein receptor gene in a female patient with typical clinical symptoms of familial hypercholesterolemia is described in this paper. Segregation of this mutation with hypercholesterolemia in the family of the patient from Petrozavodsk is demonstrated.
authors: V A
authors: VA
authors: Korneva
authors: T Iu
authors: TIu
authors: Kuznetsova
authors: T Iu
authors: TIu
authors: Komarova
authors: A S
authors: AS
authors: Golovina
authors: M Iu
authors: MIu
authors: Mandel'shtam
authors: V O
authors: VO
authors: Konstantinov
authors: V B
authors: VB
authors: Vasil'ev
mesh_terms: D004247:DNA / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000097:blood / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: C573412:LDLR protein, human; D011973:Receptors, LDL; D004247:DNA