Article
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.
Scientific reports - 20 Jul 2020
Hongo Hiroki, Miyawaki Satoru, Imai Hideaki, Shimizu Masahiro, Yagi Shinichi, Mitsui Jun, Ishiura Hiroyuki, Yoshimura Jun, Doi Koichiro, Qu Wei, Teranishi Yu, Okano Atsushi, Ono Hideaki, Nakatomi Hirofumi, Shimizu Tsuneo, Morishita Shinichi, Tsuji Shoji, Saito Nobuhito
Abstract excerpt
Intracranial artery stenosis (ICAS) is the most common cause of ischemic stroke worldwide. RNF213 single nucleotide variant c.14429G > A (p.Arg4810Lys, rs112735431) was recently reported to be associated with ICAS in East Asians. However, the disease susceptibility of other RNF213 variants has not been clarified. This study comprehensively investigated ICAS-associated RNF213 variants in a pool of 168 Japanese...
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