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J-GLOBAL ID：201902234580017953   整理番号：19A1645262

新規TRNT1変異を有する非定型SIFD: B細胞欠損の病因に関する症例研究

Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency

著者 (10件)： Kumaki Eri (Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan) ,  Tanaka Keisuke (Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan) ,  Imai Kohsuke (Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan) ,  Aoki-Nogami Yuki (Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan) ,  Aoki-Nogami Yuki (Laboratory for Human Disease Models, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan) ,  Ishiguro Akira (Center for Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan) ,  Okada Satoshi (Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan) ,  Kanegane Hirokazu (Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan) ,  Ishikawa Fumihiko (Laboratory for Human Disease Models, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan) ,  Morio Tomohiro (Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan)
資料名： International Journal of Hematology  (International Journal of Hematology)
巻： 109  号： 4  ページ： 382-389  発行年： 2019年04月 
JST資料番号： F0888A  ISSN： 0925-5710  CODEN： IJHEEY  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： ドイツ (DEU)  言語： 英語 (EN)

抄録/ポイント： tRNA分子における3′末端CCA配列の合成に必須である酵素...

シソーラス用語： ヒト ,...
準シソーラス用語： *遺伝子変異 ,...

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著者キーワード (4件)： B細胞欠損症 ,  TRNT1 ,  SIFD ,  小胞体ストレス

分類 (2件)： 血液の疾患  (GK03000F) ,  分子遺伝学一般  (EC02010J)

タイトルに関連する用語 (7件)： 変異 ,  定型 ,  B細胞 ,  欠損 ,  病因 ,  症例 ,  研究