Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Nature Genetics

Volumn 34, Issue 2, 2003, Pages 154-156

  Abifadel, Marianne ^a,b   Varret, Mathilde ^a   Rabès, Jean Pierre ^a,c   Allard, Delphine ^a   Ouguerram, Khadija ^d   Devillers, Martine ^a   Cruaud, Corinne ^e   Benjannet, Suzanne ^f   Wickham, Louise ^f   Erlich, Danièle ^a   Derré, Aurélie ^a   Villéger, Ludovic ^a   Farnier, Michel ^g   Beucler, Isabel ^h   Bruckert, Eric ^h   Chambaz, Jean ⁱ   Chanu, Bernard ^j   Lecerf, Jean Michel ^k   Luc, Gerald ^k   Moulin, Philippe ^l   Weissenbach, Jean ^e   Prat, Annick ^f   Krempf, Michel ^d   Junien, Claudine ^a,c   Seidah, Nabil G ^f   Boileau, Catherine ^a,c   more..

^a INSERM   (France)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^d HÔTEL DIEU   (France)

^e CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^f CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^g Point Medical   (France)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁱ CENTRE DE RECHERCHE DES CORDELIERS   (France)

^j HENRI MONDOR HOSPITAL   (France)

^k LILLE UNIVERSITY HOSPITAL   (France)

^l Hopital de l'Antiquaille   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; GENE PRODUCT; KEXIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; NEURAL APOPTOSIS REGULATED CONVERTASE 1; SUBTILISIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC LINKAGE; GENETIC MARKER; GENOTYPE; HOMEOSTASIS; HUMAN; HYPERCHOLESTEROLEMIA; ISCHEMIC HEART DISEASE; PCSK9 GENE; PEDIGREE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RISK FACTOR;

EID: 0037603589     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1161     Document Type: Article

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