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J-GLOBAL ID：201802264490188561   Reference number：18A1474917

Novel intracellular transport-refractory mutations in KCNH2 identified in patients with symptomatic long QT syndrome

症候性QT延長症候群患者において同定されたKCNH2における新規細胞内輸送不応性変異

Author (15)： Fukumoto Daisuke (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Ding Wei-Guang (Department of Physiology, Division of Cell Physiology, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Wada Yuko (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Fujii Yusuke (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Ichikawa Mari (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Takayama Koichiro (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Fukuyama Megumi (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Kato Koichi (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Itoh Hideki (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Makiyama Takeru (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Omatsu-Kanbe Mariko (Department of Physiology, Division of Cell Physiology, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Matsuura Hiroshi (Department of Physiology, Division of Cell Physiology, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Horie Minoru (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Ohno Seiko (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Shiga, Japan) ,  Ohno Seiko (Center for Epidemiologic Research in Asia, Shiga University of Medical Science, Otsu, Shiga, Japan)
Material： Journal of Cardiology  (J Cardiol)
Volume： 71  Issue： 4  Page： 401-408  Publication year： Apr. 2018 
JST Material Number： W2218A  ISSN： 0914-5087  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： genetic variation ,...

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Author keywords (5)： Long QT syndrome ,  KCNH2 ,  Mutation ,  Patch-clamp ,  Immunofluorescence

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

Terms in the title (7)： 症候 ,  QT延長症候群 ,  患者 ,  同定 ,  KCNH2 ,  細胞内輸送 ,  変異