Art

J-GLOBAL ID：201802241421149588   Reference number：18A0834300

Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease

モヤモヤ病の小児患者における新規および反復性RNF213変異

Author (14)： AKAGAWA Hiroyuki (Tokyo Women’s Medical Univ. Inst. for Integrated Medical Sci. (TIIMS), Tokyo, JPN) ,  MUKAWA Maki (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  NARIAI Tadashi (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  NOMURA Shunsuke (Tokyo Women’s Medical Univ. Inst. for Integrated Medical Sci. (TIIMS), Tokyo, JPN) ,  NOMURA Shunsuke (Tokyo Women’s Medical Univ., Tokyo, JPN) ,  AIHARA Yasuo (Tokyo Women’s Medical Univ., Tokyo, JPN) ,  ONDA Hideaki (Tokyo Women’s Medical Univ., Tokyo, JPN) ,  ONDA Hideaki (Tokyo Women’s Medical Univ. Medical Center East, Tokyo, JPN) ,  YONEYAMA Taku (Tokyo Women’s Medical Univ. Medical Center East, Tokyo, JPN) ,  KUDO Takumi (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  SUMITA Kazutaka (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  MAEHARA Taketoshi (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  KAWAMATA Takakazu (Tokyo Women’s Medical Univ., Tokyo, JPN) ,  KASUYA Hidetoshi (Tokyo Women’s Medical Univ. Medical Center East, Tokyo, JPN)
Material： Human Genome Variation (Web)
Volume： 5  Issue： Jan  Page： WEB ONLY  Publication year： Jan. 2018 
JST Material Number： U1014A  ISSN： 2054-345X  Document type： Article
Article type： 短報  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： *Moyamoya Disease ,...
Semi thesaurus term： *infantile disease ,...

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JST classification (3)： Nervous system diseases  (GN03000O) ,  Molecular genetics in general  (EC02010J) ,  Pediatrics in general.  (GC08010B)

Terms in the title (3)： モヤモヤ病 ,  小児患者 ,  変異