Article
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Nature genetics - 1 Jun 2003
Abifadel Marianne, Varret Mathilde, Rabès Jean-Pierre, Allard Delphine, Ouguerram Khadija, Devillers Martine, Cruaud Corinne, Benjannet Suzanne, Wickham Louise, Erlich Danièle, Derré Aurélie, Villéger Ludovic, Farnier Michel, Beucler Isabel, Bruckert Eric, Chambaz Jean, Chanu Bernard, Lecerf Jean-Michel, Luc Gerald, Moulin Philippe, Weissenbach Jean, Prat Annick, Krempf Michel, Junien Claudine, Seidah Nabil G, Boileau Catherine
Abstract excerpt
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...
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