Autosomal dominant type IIa hypercholesterolemia: Evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects

European Journal of Human Genetics

Volumn 8, Issue 8, 2000, Pages 621-630

  Saint Jore, Bruno ^a   Varret, Mathilde ^a   Dachet, Christiane ^a   Rabès, Jean Pierre ^a,b   Devillers, Martine ^a   Erlich, Danielle ^c   Blanchard, Patricia ^d   Krempf, Michel ^d   Mathé, Denis ^e   Chanu, Bernard ^e   Jacotot, Bernard ^e   Farnier, Michel ^f   Bonaïti Péllié, Catherine ^g   Junien, Claudine ^a,b   Boileau, Catherine ^a,b  

^a INSERM   (France)

^b Laboratoire de Biochimie et de Génétique Moléculaire   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d HÔTEL DIEU   (France)

^e HENRI MONDOR HOSPITAL   (France)

^f Point Medical   (France)

^g INSTITUT GUSTAVE ROUSSY   (France)

Author keywords

Apolipoprotein B; Autosomal dominant type IIa hypercholesterolaemia; Familial defective apolipoprotein B 100; Familial hypercholesterolaemia; Genetic heterogeneity; LDL receptor

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN B100; CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHOLESTEROL BLOOD LEVEL; FAMILIAL HYPERCHOLESTEROLEMIA; FRANCE; GENE MAPPING; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC LINKAGE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

APOLIPOPROTEINS B; CHOLESTEROL, LDL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; GENETIC HETEROGENEITY; HAPLOTYPES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LINKAGE (GENETICS); LOD SCORE; MALE; MATHEMATICAL COMPUTING; MICROSATELLITE REPEATS; PEDIGREE; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA; TRIGLYCERIDES;

EID: 0033898272     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200516     Document Type: Article

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