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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: varret m. Nat Genet. 2003 Jun;34(2):154-6. doi: 10.1038/ng1161. Nat Genet. 2003. PMID: 12730697
LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.
Varret M, Rabés JP, Thiart R, Kotze MJ, Baron H, Cenarro A, Descamps O, Ebhardt M, Hondelijn JC, Kostner GM, Miyake Y, Pocovi M, Schmidt H, Schuster H, Stuhrmann M, Yamamura T, Junien C, Béroud C, Boileau C. Varret M, et al. Nucleic Acids Res. 1998 Jan 1;26(1):248-52. doi: 10.1093/nar/26.1.248. Nucleic Acids Res. 1998. PMID: 9399845 Free PMC article.
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.
Varret M, Rabès JP, Saint-Jore B, Cenarro A, Marinoni JC, Civeira F, Devillers M, Krempf M, Coulon M, Thiart R, Kotze MJ, Schmidt H, Buzzi JC, Kostner GM, Bertolini S, Pocovi M, Rosa A, Farnier M, Martinez M, Junien C, Boileau C. Varret M, et al. Am J Hum Genet. 1999 May;64(5):1378-87. doi: 10.1086/302370. Am J Hum Genet. 1999. PMID: 10205269 Free PMC article.
Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
Saint-Jore B, Varret M, Dachet C, Rabès JP, Devillers M, Erlich D, Blanchard P, Krempf M, Mathé D, Chanu B, Jacotot B, Farnier M, Bonaïti-Péllié C, Junien C, Boileau C. Saint-Jore B, et al. Among authors: varret m. Eur J Hum Genet. 2000 Aug;8(8):621-30. doi: 10.1038/sj.ejhg.5200516. Eur J Hum Genet. 2000. PMID: 10952765
71 results