Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.

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作者： Tetsuya,Niihori ^[1] ; Meri,Ouchi-Uchiyama ^[2] ; Yoji,Sasahara ^[3] ; Takashi,Kaneko ^[4] ; Yoshiko,Hashii ^[5] ; Masahiro,Irie ^[2] ; Atsushi,Sato ^[6] ; Yuka,Saito-Nanjo ^[2] ; Ryo,Funayama ^[7] ; Takeshi,Nagashima ^[7] ; Shin-Ichi,Inoue ^[8] ; Keiko,Nakayama ^[7] ; Keiichi,Ozono ^[5] ; Shigeo,Kure ^[3] ; Yoichi,Matsubara ^[9] ; Masue,Imaizumi ^[6] ; Yoko,Aoki ^[8]

作者单位： Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan. Electronic address: tniihori@med.tohoku.ac.jp. ^[1] Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan; Department of Hematology and Oncology, Miyagi Children's Hospital, Sendai 989-3126, Japan. ^[2] Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan. ^[3] Department of Hematology-Oncology, Tokyo Metropolitan Children's Medical Center, Fuchu 183-8561, Japan. ^[4] Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan. ^[5] Department of Hematology and Oncology, Miyagi Children's Hospital, Sendai 989-3126, Japan. ^[6] Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan. ^[7] Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan. ^[8] Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan; National Research Institute for Child Health and Development, Tokyo 157-8535, Japan. ^[9]