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. 2003 Jun;34(2):154-6.
doi: 10.1038/ng1161.

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Marianne Abifadel  1 , Mathilde Varret, Jean-Pierre Rabès, Delphine Allard, Khadija Ouguerram, Martine Devillers, Corinne Cruaud, Suzanne Benjannet, Louise Wickham, Danièle Erlich, Aurélie Derré, Ludovic Villéger, Michel Farnier, Isabel Beucler, Eric Bruckert, Jean Chambaz, Bernard Chanu, Jean-Michel Lecerf, Gerald Luc, Philippe Moulin, Jean Weissenbach, Annick Prat, Michel Krempf, Claudine Junien, Nabil G Seidah, Catherine Boileau
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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Marianne Abifadel et al. Nat Genet. 2003 Jun.

Abstract

Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipoprotein B). We mapped a third locus associated with ADH, HCHOLA3 at 1p32, and now report two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH. PCSK9 encodes NARC-1 (neural apoptosis regulated convertase), a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis.

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