The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype-phenotype correlations

Atherosclerosis

Volumn 223, Issue 2, 2012, Pages 401-408

  Tichý, Lukáš ^a,b   Freiberger, Tomáš ^b,c   Zapletalová, Petra ^a   Soška, Vladimír ^b   Ravčuková, Barbora ^c   Fajkusová, Lenka ^b  

^a UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^b MASARYK UNIVERSITY   (Czech Republic)

^c CENTRE FOR CARDIOVASCULAR SURGERY AND TRANSPLANTATION   (Czech Republic)

Author keywords

APOB; Familial hypercholesterolemia; LDL cholesterol; LDLR; Lipid profile

Indexed keywords

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

ADULT; ARTICLE; CHEMICAL ANALYSIS; CHOLESTEROL BLOOD LEVEL; CZECH REPUBLIC; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LIPID ANALYSIS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; STATISTICAL ANALYSIS; TRIACYLGLYCEROL BLOOD LEVEL;

ADOLESCENT; ADULT; APOLIPOPROTEINS B; BIOLOGICAL MARKERS; CHI-SQUARE DISTRIBUTION; CHILD; CZECH REPUBLIC; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LINEAR MODELS; LIPIDS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; RECEPTORS, LDL; RISK ASSESSMENT; RISK FACTORS; YOUNG ADULT;

EID: 84864761102     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2012.05.014     Document Type: Article

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