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- W3094248584 abstract "Ringer finger protein 213 (RNF213) のmissense variant c.14429G＞A (p.Arg4810Lys, rs112735431) が頭蓋内血管狭窄 (intracranial artery stenosis : ICAS) と有意な関連があることが明らかにされてきた. またRNF213 p.Arg4810Lysは, 冠動脈狭窄・腎動脈狭窄や肺高血圧症との関連が明らかとなっており, 全身の血管疾患をきたすvariantとして注目されてきている. RNF213の機能解析も進んでいるが, 疾患発症に関わるメカニズムはいまだ明らかとなっておらず, さらなる解析が期待される." @default.
- W3094248584 created "2020-10-29" @default.
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- W3094248584 date "2020-01-01" @default.
- W3094248584 modified "2023-10-16" @default.
- W3094248584 title "Genetic Factor for Intracranial Artery Stenosis" @default.
- W3094248584 doi "https://doi.org/10.7887/jcns.29.680" @default.
- W3094248584 hasPublicationYear "2020" @default.
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