首页> Clinical genetics> A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.

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第一作者： Yuri,Uchiyama

第一单位： Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.;Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

作者： Yuri,Uchiyama ^[1] ; Kunio,Yanagisawa ^[2] ; Shinji,Kunishima ^[3] ; Masaaki,Shiina ^[4] ; Yoshiyuki,Ogawa ^[2] ; Mitsuko,Nakashima ^[5] ; Junko,Hirato ^[6] ; Eri,Imagawa ^[7] ; Atsushi,Fujita ^[7] ; Kohei,Hamanaka ^[7] ; Satoko,Miyatake ^[8] ; Satomi,Mitsuhashi ^[7] ; Atsushi,Takata ^[7] ; Noriko,Miyake ^[7] ; Kazuhiro,Ogata ^[4] ; Hiroshi,Handa ^[9] ; Naomichi,Matsumoto ^[7] ; Takeshi,Mizuguchi ^[7]

作者单位： Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.;Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan. ^[1] Department of Hematology, Gunma University Graduate School of Medicine, Maebashi, Japan. ^[2] Department of Medical Technology, Gifu University of Medical Science, Seki, Japan. ^[3] Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan. ^[4] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.;Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. ^[5] Department of Pathology, Gunma University Hospital, Maebashi, Japan. ^[6] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. ^[7] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.;Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan. ^[8] Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan. ^[9]

关键词 CYCS cytochrome c hemophilia A loss of function mutation mitochondria thrombocytopenia