アカガワ　ヒロユキ   AKAGAWA HIROYUKI   赤川　浩之    所属   研究施設 研究施設    職種   准教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease.
掲載誌名	正式名：Human genome variation 略　 称：Hum Genome Var ISSNコード：2054345X/2054345X
掲載区分	国外
巻・号・頁	5,pp.17060
著者・共著者	Akagawa Hiroyuki†, Mukawa Maki, Nariai Tadashi, Nomura Shunsuke, Aihara Yasuo, Onda Hideaki, Yoneyama Taku, Kudo Takumi, Sumita Kazutaka, Maehara Taketoshi, Kawamata Takakazu, Kasuya Hidetoshi
発行年月	2018/01
概要	Moyamoya disease is a progressive steno-occlusive condition of the main intracranial arteries that results in the compensatory formation of fragile moyamoya vessels at the base of the brain. RNF213 is the most significant susceptibility gene and is often found with the p.Arg4810Lys founder variant in East Asian patients. We identified three putatively deleterious variants of this gene from three pediatric patients: two were novel, and one was a recurrent missense variant previously reported in other pediatric patients.
DOI	10.1038/hgv.2017.60
PMID	29387438