Two novel slavic point mutations in the low-density lipoprotein receptor gene in patients with familial Hypercholesterolemia from St. Petersburg, Russia

Molecular Genetics and Metabolism

Volumn 63, Issue 1, 1998, Pages 31-34

  Kh , Chakir ^a   Skobeleva, Natalia A ^a   Shevtsov, Sergei P ^a   Konstantinov, Vladimir O ^b   Denisenko, Alexander D ^b   Schwartz, Eugene I ^a  

^a PETERSBURG NUCLEAR PHYSICS INSTITUTE   (Russian Federation)

^b INSTITUTE OF BIOMEDICAL CHEMISTRY   (Russian Federation)

Author keywords

Familial hypercholesterolemia; Low density lipoprotein receptor; PCR SSCP analysis; Polymerase chain reaction; Single strand conformation polymorphism

Indexed keywords

ARTICLE; DISULFIDE BOND; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031716383     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1997.2614     Document Type: Article

References (10)

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