A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1

European Journal of Human Genetics

Volumn 18, Issue 11, 2010, Pages 1236-1242

  Marques Pinheiro, Alice ^a   Marduel, Marie ^a   Rabès, Jean Pierre ^a,b   Devillers, Martine ^a   Villéger, Ludovic ^a   Allard, Delphine ^a   Weissenbach, Jean ^c   Guerin, Maryse ^d   Zair, Yassine ^e   Erlich, Danièle ^a   Junien, Claudine ^a   Munnich, Arnold ^a   Krempf, Michel ^e   Abifadel, Marianne ^a,f   Jaïs, Jean Philippe ^g   Boileau, Catherine ^a,b   Varret, Mathilde ^a  

^a INSERM   (France)

^b HÔPITAL AMBROISE PARÉ   (France)

^c CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e L INSTITUT DU THORAX   (France)

^f SAINT JOSEPH UNIVERSITY   (Lebanon)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

genetics; hypercholesterolemia; lipoprotein metabolism; mapping

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9; SERINE PROTEINASE; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; VASOPRESSIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 16Q; CLINICAL ARTICLE; FEMALE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOTYPE; HCHOLA4 GENE; HUMAN; HUMAN GENOME; HYPERCHOLESTEROLEMIA; INTRON; MALE; PRIORITY JOURNAL; TRIACYLGLYCEROL BLOOD LEVEL;

EID: 77958483258     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.94     Document Type: Article

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