Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

  title={Mutations in PCSK9 cause autosomal dominant hypercholesterolemia},
  author={M. Abifadel and M. Varret and J. Rab{\`e}s and D. Allard and K. Ouguerram and M. Devillers and C. Cruaud and S. Benjannet and L. Wickham and D. Erlich and A. Derr{\'e} and L. Vill{\'e}ger and M. Farnier and I. Beucler and E. Bruckert and J. Chambaz and B. Chanu and Jean-Michel Lecerf and G. Luc and P. Moulin and J. Weissenbach and Annick Prat and M. Krempf and C. Junien and N. Seidah and C. Boileau},
  journal={Nature Genetics},
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… Expand
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