Article
Frequent pathway mutations of splicing machinery in myelodysplasia.
Nature - 11 Sept 2011
Yoshida Kenichi, Sanada Masashi, Shiraishi Yuichi, Nowak Daniel, Nagata Yasunobu, Yamamoto Ryo, Sato Yusuke, Sato-Otsubo Aiko, Kon Ayana, Nagasaki Masao, Chalkidis George, Suzuki Yutaka, Shiosaka Masashi, Kawahata Ryoichiro, Yamaguchi Tomoyuki, Otsu Makoto, Obara Naoshi, Sakata-Yanagimoto Mamiko, Ishiyama Ken, Mori Hiraku, Nolte Florian, Hofmann Wolf-Karsten, Miyawaki Shuichi, Sugano Sumio, Haferlach Claudia, Koeffler H Phillip, Shih Lee-Yung, Haferlach Torsten, Chiba Shigeru, Nakauchi Hiromitsu, Miyano Satoru, Ogawa Seishi
Abstract excerpt
Myelodysplastic syndromes and related disorders (myelodysplasia) are a heterogeneous group of myeloid neoplasms showing deregulated blood cell production with evidence of myeloid dysplasia and a predisposition to acute myeloid leukaemia, whose pathogenesis is only incompletely understood. Here we report whole-exome sequencing of 29 myelodysplasia specimens, which unexpectedly revealed novel pathway mutations...
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