2003Nature GeneticsRequires access

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Marianne Abifadel, Mathilde Varret, Jean‐Pierre Rabès, Delphine Allard, Khadija Ouguerram, Martine Devillers, Corinne Cruaud, Suzanne Benjannet, L. Alexandra Wickham, D. Erlich, Aurélie Derré, Ludovic Villéger, Michel Farnier, Isabel Beucler, Éric Bruckert, Jean Chambaz, B. Chanu, Jean‐Michel Lecerf, Gérald Luc, Philippe Moulin, Jean Weissenbach, Annik Prat, Michel Krempf, Claudine Junien, Nabil G. Seidah, Cathérine Boileau

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Key concepts: PCSK9, Kexin, Biology, Proprotein convertase, Apolipoprotein B, LDL receptor, Familial hypercholesterolemia, Lipoprotein

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