Molecular basis of SERPINC1 mutations in Japanese patients with antithrombin deficiency.

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第一作者： Shogo,Tamura

第一单位： Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: stamura@met.nagoya-u.ac.jp.

作者： Shogo,Tamura ^[1] ; Erika,Hashimoto ^[2] ; Nobuaki,Suzuki ^[3] ; Misaki,Kakihara ^[2] ; Koya,Odaira ^[2] ; Yuna,Hattori ^[2] ; Mahiru,Tokoro ^[2] ; Sachiko,Suzuki ^[2] ; Akira,Takagi ^[2] ; Akira,Katsumi ^[4] ; Fumihiko,Hayakawa ^[2] ; Atsuo,Suzuki ^[5] ; Shuichi,Okamoto ^[6] ; Takeshi,Kanematsu ^[5] ; Tadashi,Matsushita ^[7] ; Tetsuhito,Kojima ^[8]

作者单位： Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: stamura@met.nagoya-u.ac.jp. ^[1] Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan. ^[2] Department of Transfusion Medicine, Nagoya University Hospital, Nagoya, Japan. ^[3] Department of Transfusion Medicine, National Center for Geriatrics and Gerontology, Obu, Japan. ^[4] Department of Clinical Laboratory, Nagoya University Hospital, Nagoya, Japan. ^[5] Department of Hematology and Oncology, Nagoya University Graduate School of Medicine, Nagoya, Japan. ^[6] Department of Transfusion Medicine, Nagoya University Hospital, Nagoya, Japan; Department of Clinical Laboratory, Nagoya University Hospital, Nagoya, Japan. ^[7] Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: kojima@met.nagoya-u.ac.jp. ^[8]

关键词 Antithrombin deficiency Gene rearrangement Genetic mutation SERPINC1 Thrombosis