1. Academic Validation
  2. Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia

Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia

  • Haematologica. 2017 Mar;102(3):e93-e96. doi: 10.3324/haematol.2016.153932.
Fumika Ikeda 1 Kenichi Yoshida 2 3 Tsutomu Toki 1 Tamayo Uechi 4 Shiori Ishida 4 Yukari Nakajima 4 Yoji Sasahara 5 Yusuke Okuno 2 6 Rika Kanezaki 1 Kiminori Terui 1 Takuya Kamio 1 Akie Kobayashi 1 Takashi Fujita 1 Aiko Sato-Otsubo 2 3 Yuichi Shiraishi 7 Hiroko Tanaka 7 Kenichi Chiba 7 Hideki Muramatsu 6 Hitoshi Kanno 8 Shouichi Ohga 9 Akira Ohara 10 Seiji Kojima 6 Naoya Kenmochi 4 Satoru Miyano 7 11 Seishi Ogawa 12 3 Etsuro Ito 13
Affiliations

Affiliations

  • 1 Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan.
  • 2 Cancer Genomics Project, Graduate School of Medicine, The University of Tokyo, Japan.
  • 3 Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Japan.
  • 4 Frontier Science Research Center, University of Miyazaki, Japan.
  • 5 Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • 6 Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan.
  • 7 Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
  • 8 Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Fukuoka, Japan.
  • 9 Department of Pediatrics, Graduate School of Medicine, Kyushu University, Fukuoka, Japan.
  • 10 Department of Pediatrics, Omori Hospital, Toho University, Tokyo, Japan.
  • 11 Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
  • 12 Cancer Genomics Project, Graduate School of Medicine, The University of Tokyo, Japan sogawa-tky@umin.ac.jp eturou@hirosaki-u.ac.jp.
  • 13 Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan sogawa-tky@umin.ac.jp eturou@hirosaki-u.ac.jp.
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