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Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3.
Hiejima, Eitaro; Shibata, Hirofumi; Yasumi, Takahiro; Shimodera, Saeko; Hori, Masayuki; Izawa, Kazushi; Kawai, Tomoki; Matsuoka, Masaki; Kojima, Yasuko; Ohara, Akira; Nishikomori, Ryuta; Ohara, Osamu; Heike, Toshio.
  • Hiejima E; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Shibata H; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Yasumi T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address: yasumi@kuhp.kyoto-u.ac.jp.
  • Shimodera S; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Hori M; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Izawa K; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Kawai T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Matsuoka M; Department of Pediatrics, Toho University Ohmori Medical Center, Tokyo, Japan.
  • Kojima Y; Department of Pediatrics, Toho University Ohmori Medical Center, Tokyo, Japan.
  • Ohara A; Department of Pediatrics, Toho University Ohmori Medical Center, Tokyo, Japan.
  • Nishikomori R; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Ohara O; Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan; Department of Human Genome Research, Kazusa DNA Research Institute, Kisarazu, Japan.
  • Heike T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Clin Immunol ; 191: 63-66, 2018 06.
Article en En | MEDLINE | ID: mdl-29596912
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Duplicación de Gen / Linfohistiocitosis Hemofagocítica / Proteínas de la Membrana Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Duplicación de Gen / Linfohistiocitosis Hemofagocítica / Proteínas de la Membrana Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Año: 2018 Tipo del documento: Article