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A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.
Marques-Pinheiro A, Marduel M, Rabès JP, Devillers M, Villéger L, Allard D, Weissenbach J, Guerin M, Zair Y, Erlich D, Junien C, Munnich A, Krempf M, Abifadel M, Jaïs JP; French Research Network on ADH; Boileau C, Varret M. Marques-Pinheiro A, et al. Among authors: villeger l. Eur J Hum Genet. 2010 Nov;18(11):1236-42. doi: 10.1038/ejhg.2010.94. Epub 2010 Jun 23. Eur J Hum Genet. 2010. PMID: 20571503 Free PMC article.
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Abifadel M, et al. Among authors: villeger l. Nat Genet. 2003 Jun;34(2):154-6. doi: 10.1038/ng1161. Nat Genet. 2003. PMID: 12730697