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

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Bibliographic Details
Published in:	Haematologica (Roma) 2017-03, Vol.102 (3), p.e93-e96
Main Authors:	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
Format:	Article
Language:	English
Subjects:	Adult Alternative Splicing Anemia, Diamond-Blackfan - genetics Anemia, Diamond-Blackfan - metabolism Anemia, Diamond-Blackfan - pathology Animals Cell Proliferation Child, Preschool CRISPR-Cas Systems Embryo, Nonmammalian Exome Exons Female Gene Editing Gene Expression Haploinsufficiency Humans Infant K562 Cells Online Only Pedigree Point Mutation Ribosomal Proteins - deficiency Ribosomal Proteins - genetics RNA, Ribosomal, 18S - genetics RNA, Ribosomal, 18S - metabolism Siblings Whole Exome Sequencing Zebrafish
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