Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia

Runan Wang, Kenichi Yoshida, Tsutomu Toki, Takafumi Sawada, Tamayo Uechi, Yusuke Okuno, Aiko Sato-Otsubo, Kazuko Kudo, Isamu Kamimaki, Rika Kanezaki, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Kiminori Terui, Tomohiko Sato, Yuji Iribe, Shouichi Ohga, Madoka Kuramitsu, Isao Hamaguchi, Akira OharaJunichi Hara, Kumiko Goi, Kousaku Matsubara, Kenichi Koike, Akira Ishiguro, Yasuhiro Okamoto, Kenichiro Watanabe, Hitoshi Kanno, Seiji Kojima, Satoru Miyano, Naoya Kenmochi, Seishi Ogawa, Etsuro Ito

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Medicine & Life Sciences