Art

J-GLOBAL ID：201702231134582844   Reference number：17A0283314

Mutation in hnRNPA1 causes isolated inclusion body myopathy in two families with multisystem proteinopathy

hnRNPA1の突然変異は多系統蛋白症を伴う2つの家族における孤立性封入体ミオパチーを引き起こす

Author (16)： IZUMI Rumiko (Tohoku Univ. Graduate School of Medicine, JPN) ,  IZUMI Rumiko (Tohoku Univ. Graduate School of Medicine) ,  WARITA Hitoshi (Tohoku Univ. Graduate School of Medicine, JPN) ,  NIIHORI Tetsuya (Tohoku Univ. Graduate School of Medicine) ,  TAKAHASHI Toshiaki (National Hospital Organization Sendai-Nishitaga National Hospital) ,  TATEYAMA Maki (Tohoku Univ. Graduate School of Medicine, JPN) ,  SUZUKI Naoki (Tohoku Univ. Graduate School of Medicine, JPN) ,  NISHIYAMA Ayumi (Tohoku Univ. Graduate School of Medicine, JPN) ,  NISHIYAMA Ayumi (Tohoku Univ. Graduate School of Medicine) ,  SHIROTA Matsuyuki (Tohoku Univ. Graduate School of Medicine) ,  FUNAYAMA Ryo (Tohoku Univ. Graduate School of Medicine) ,  NAKAYAMA Keiko (Tohoku Univ. Graduate School of Medicine) ,  MITSUHASHI Satomi (NCNP) ,  NISHINO Ichizo (NCNP) ,  AOKI Yoko (Tohoku Univ. Graduate School of Medicine) ,  AOKI Masashi (Tohoku Univ. Graduate School of Medicine, JPN)
Material： 日本人類遺伝学会大会プログラム・抄録集  (日本人類遺伝学会大会)
Volume： 61st(Web)  Page： ROMBUNNO.Mon(2)-O7-5 (WEB ONLY)  Publication year： 2016 
JST Material Number： L1204A  Document type： Proceedings
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *muscular disease ,...
Semi thesaurus term： *hnRNPA1 ,...

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JST classification (4)： Genetic variation  (EC01030Y) ,  Gene expression  (EC02040Q) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Diagnostics of congenital diseases, deformities.  (GD03020G)

Terms in the title (5)： 突然変異 ,  蛋白症 ,  家族 ,  封入体 ,  ミオパチー