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
  • 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 [email protected] [email protected].
  • 13. Department of Pediatrics, Hirosaki University Graduate School of Medicine, Japan [email protected] [email protected].
PMID: 27909223 DOI: 10.3324/haematol.2016.153932