Article
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.
Proceedings of the National Academy of Sciences of the United States of America - 14 May 2013
Kirino Yohei, Zhou Qing, Ishigatsubo Yoshiaki, Mizuki Nobuhisa, Tugal-Tutkun Ilknur, Seyahi Emire, Özyazgan Yilmaz, Ugurlu Serdal, Erer Burak, Abaci Neslihan, Ustek Duran, Meguro Akira, Ueda Atsuhisa, Takeno Mitsuhiro, Inoko Hidetoshi, Ombrello Michael J, Satorius Colleen L, Maskeri Baishali, Mullikin James C, Sun Hong-Wei, Gutierrez-Cruz Gustavo, Kim Yoonhee, Wilson Alexander F, Kastner Daniel L, Gül Ahmet, Remmers Elaine F
Abstract excerpt
Genome-wide association studies (GWAS) are a powerful means of identifying genes with disease-associated common variants, but they are not well-suited to detecting genes with disease-associated rare and low-frequency variants. In the current study of Behçet disease (BD), nonsynonymous variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL23R, CCR1, STAT4, KLRK1, KLRC1, KLRC2,...
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