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J-GLOBAL ID：201902234580017953   Reference number：19A1645262

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

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

Author (10)： 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)
Material： International Journal of Hematology  (Int J Hematol)
Volume： 109  Issue： 4  Page： 382-389  Publication year： Apr. 2019 
JST Material Number： F0888A  ISSN： 0925-5710  CODEN： IJHEEY  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *genetic variation ,...

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Author keywords (4)： B-cell deficiency ,  TRNT1 ,  SIFD ,  Endoplasmic reticulum stress

JST classification (2)： Hematologic diseases  (GK03000F) ,  Molecular genetics in general  (EC02010J)

Terms in the title (7)： 変異 ,  定型 ,  B細胞 ,  欠損 ,  病因 ,  症例 ,  研究