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J-GLOBAL ID：201902283378622754   Reference number：19A1337073

Apparent synonymous mutation F9 c.87A>G causes secretion failure by in-frame mutation with aberrant splicing

見かけの同義突然変異F9 c.87A>Gは異常スプライシングを伴うフレーム内突然変異による分泌不全を引き起こす【JST・京大機械翻訳】

Author (16)： Odaira Koya (Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Tamura Shogo (Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Suzuki Nobuaki (Department of Transfusion Medicine, Nagoya University Hospital, Nagoya, Japan) ,  Kakihara Misaki (Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Hattori Yuna (Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Tokoro Mahiru (Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Suzuki Sachiko (Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Takagi Akira (Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Katsumi Akira (Department of Transfusion Medicine, National Center for Geriatrics and Gerontology, Obu, Japan) ,  Hayakawa Fumihiko (Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Okamoto Shuichi (Department of Hematology and Oncology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Suzuki Atsuo (Department of Clinical Laboratory, Nagoya University Hospital, Nagoya, Japan) ,  Kanematsu Takeshi (Department of Clinical Laboratory, Nagoya University Hospital, Nagoya, Japan) ,  Matsushita Tadashi (Department of Transfusion Medicine, Nagoya University Hospital, Nagoya, Japan) ,  Matsushita Tadashi (Department of Clinical Laboratory, Nagoya University Hospital, Nagoya, Japan) ,  Kojima Tetsuhito (Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan)
Material： Thrombosis Research  (Thromb Res)
Volume： 179  Page： 95-103  Publication year： 2019 
JST Material Number： B0585B  ISSN： 0049-3848  CODEN： THBRAA  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Hemophilia B is an X-linked re...

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Thesaurus term： forecast ,  HepG2 cell ,  proteolysis ,  recessive ,  *Mutation ,  gene ,  cDNA ,  signal peptide ,  proteasome ,  freezing and solidification ,  external secretion ,  *secretion (physiology) ,  pathogenicity ,  intracellular dynamics ,  in silico

Author keywords (5)： Hemophilia B ,  Splicing abnormality ,  Aberrant 5′ splice site ,  Signal peptide cleavage defect ,  Proteasome-dependent protein degradation

JST classification (1)： Cardiovascular system diseases  (GJ03000C)

Terms in the title (3)： 突然変異 ,  スプライシング ,  分泌