Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia

Journal of Human Genetics

Volumn 49, Issue 4, 2004, Pages 173-176

  Mihaylov, Vassil A ^a   Horvath, Anelia D ^a   Savov, Alexey S ^b   Kurshelova, Elina F ^a   Paskaleva, Ivanka D ^c   Goudev, Assen R ^a   Stoilov, Ivaylo R ^d   Ganev, Varban S ^a  

^a MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^b UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^c Cardiovasc Cent   (Bulgaria)

^d UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

Author keywords

Familial hypercholesterolemia; LDL receptor; Point mutations

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BULGARIA; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LDL RECEPTOR GENE; LIPID METABOLISM; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; POLYMERASE CHAIN REACTION; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM;

BULGARIA; DNA; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; HUMANS; HYPERCHOLESTEROLEMIA; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, LDL;

EID: 2442654396     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-004-0127-6     Document Type: Article

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