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J-GLOBAL ID：201802253076553238   Reference number：18A0800825

Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3

家族性hemophagocyticリンパ組織球症3型患者における大きなunc13d遺伝子重複の特性化【JST・京大機械翻訳】

Author (14)： Hiejima Eitaro (Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Shibata Hirofumi (Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Yasumi Takahiro (Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Shimodera Saeko (Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Hori Masayuki (Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Izawa Kazushi (Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Kawai Tomoki (Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Matsuoka Masaki (Department of Pediatrics, Toho University Ohmori Medical Center, Tokyo, Japan) ,  Kojima Yasuko (Department of Pediatrics, Toho University Ohmori Medical Center, Tokyo, Japan) ,  Ohara Akira (Department of Pediatrics, Toho University Ohmori Medical Center, Tokyo, Japan) ,  Nishikomori Ryuta (Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Ohara Osamu (Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan) ,  Ohara Osamu (Department of Human Genome Research, Kazusa DNA Research Institute, Kisarazu, Japan) ,  Heike Toshio (Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan)
Material： Clinical Immunology  (Clin Immunol)
Volume： 191  Page： 63-66  Publication year： 2018 
JST Material Number： A1154A  ISSN： 1521-6616  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Familial hemophagocytic lympho...

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Thesaurus term： *Gene Duplication ,  NK cell ,  degranulation (immunology) ,  cytotoxicity ,  *patient ,  *Histiocytosis ,  *characterization ,  *gene ,  Mutation ,  *Lymph ,  genomic DNA ,  protein expression ,  Alu Elements ,  Genetic Variation ,  *molecular genetic phenomenon ,  *body fluid
Semi thesaurus term： variation(biology) ,  家族性血球どん食症候群 , 【Automatic Indexing@JST】

Author keywords (5)： Familial hemophagocytic lymphohistiocytosis type 3 ,  UNC13D ,  Duplication mutation ,  Genetic recombination ,  Alu elements

JST classification (1)： Molecular genetics in general  (EC02010J)

Terms in the title (6)： 家族 ,  リンパ ,  組織球症 ,  患者 ,  遺伝子重複 ,  特性化