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Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.
Ikeda, Fumika; Yoshida, Kenichi; Toki, Tsutomu; Uechi, Tamayo; Ishida, Shiori; Nakajima, Yukari; Sasahara, Yoji; Okuno, Yusuke; Kanezaki, Rika; Terui, Kiminori; Kamio, Takuya; Kobayashi, Akie; Fujita, Takashi; Sato-Otsubo, Aiko; Shiraishi, Yuichi; Tanaka, Hiroko; Chiba, Kenichi; Muramatsu, Hideki; Kanno, Hitoshi; Ohga, Shouichi; Ohara, Akira; Kojima, Seiji; Kenmochi, Naoya; Miyano, Satoru; Ogawa, Seishi; Ito, Etsuro.
Afiliação
  • Ikeda F; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
  • Yoshida K; Cancer Genomics Project, Graduate School of Medicine, The University of Tokyo, Japan.
  • Toki T; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Japan.
  • Uechi T; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
  • Ishida S; Frontier Science Research Center, University of Miyazaki, Japan.
  • Nakajima Y; Frontier Science Research Center, University of Miyazaki, Japan.
  • Sasahara Y; Frontier Science Research Center, University of Miyazaki, Japan.
  • Okuno Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Kanezaki R; Cancer Genomics Project, Graduate School of Medicine, The University of Tokyo, Japan.
  • Terui K; Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan.
  • Kamio T; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
  • Kobayashi A; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
  • Fujita T; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
  • Sato-Otsubo A; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
  • Shiraishi Y; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
  • Tanaka H; Cancer Genomics Project, Graduate School of Medicine, The University of Tokyo, Japan.
  • Chiba K; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Japan.
  • Muramatsu H; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
  • Kanno H; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
  • Ohga S; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
  • Ohara A; Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan.
  • Kojima S; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Fukuoka, Japan.
  • Kenmochi N; Department of Pediatrics, Graduate School of Medicine, Kyushu University, Fukuoka, Japan.
  • Miyano S; Department of Pediatrics, Omori Hospital, Toho University, Tokyo, Japan.
  • Ogawa S; Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan.
  • Ito E; Frontier Science Research Center, University of Miyazaki, Japan.
Haematologica ; 102(3): e93-e96, 2017 03.
Article em En | MEDLINE | ID: mdl-27909223
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / RNA Ribossômico 18S / Mutação Puntual / Anemia de Diamond-Blackfan / Haploinsuficiência / Exoma Limite: Adult / Animals / Child, preschool / Female / Humans / Infant Idioma: En Revista: Haematologica Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / RNA Ribossômico 18S / Mutação Puntual / Anemia de Diamond-Blackfan / Haploinsuficiência / Exoma Limite: Adult / Animals / Child, preschool / Female / Humans / Infant Idioma: En Revista: Haematologica Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão