Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia

Circulation Research

Volumn 90, Issue 9, 2002, Pages 951-958

  Al Kateb, Hussam ^a   Bähring, Sylvia ^a   Hoffmann, Katrin ^a   Strauch, Konstantin ^a   Busjahn, Andreas ^a   Nürnberg, Gudrun ^a   Jouma, Muhidien ^a   Bautz, Eckehard K F ^a   Dresel, Hans A ^a   Luft, Friedrich C ^a  

^a NONE   (Germany)

Author keywords

Cholesterol; Familial hypercholesterolemia; Genetics; Hyperlipidemia; LDL

Indexed keywords

ADAPTOR PROTEIN; CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 1; CHROMOSOME 13; CHROMOSOME 13Q; CHROMOSOME MARKER; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE LOCUS; GENE MUTATION; GENE STRUCTURE; GENETIC LINKAGE; GENOME; GENOTYPE; HUMAN; INHERITANCE; MALE; MULTIGENE FAMILY; PRIORITY JOURNAL; SPLICEOSOME;

BASE SEQUENCE; CHOLESTEROL; CHOLESTEROL, HDL; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 13; FAMILY HEALTH; FEMALE; GENES; GENES, RECESSIVE; GENOTYPE; HAPLOTYPES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; SYRIA; TRIGLYCERIDES;

EID: 0037123969     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.RES.0000018002.43041.08     Document Type: Article

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