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論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Genotype-Phenotype Correlation in Long-Term Cohort of Japanese Patients with Moyamoya Disease.
掲載誌名	正式名：Cerebrovascular diseases (Basel, Switzerland) 略　 称：Cerebrovasc Dis ISSNコード：(1421-9786)1015-9770(Linking)
掲載区分	国外
巻・号・頁	47(3-4),pp.105-111
著者・共著者	Nomura Shunsuke†, Yamaguchi Koji, Akagawa Hiroyuki, Kawashima Akitsugu, Moteki Yosuke, Ishikawa Tatsuya, Aihara Yasuo, Saito Taiichi, Okada Yoshikazu, Kawamata Takakazu
発行年月	2019/04
概要	The p.R4810K founder variant of RNF213 affects the phenotype at disease onset. However, the optimal revascularization may be effective, regardless of the genotype, even for the homozygous variant, which has been thought to be the most pathogenic. This genotype may not strongly influence the long-term clinical manifestations or poor prognosis in MMD.
DOI	10.1159/000499699
PMID	30947170