Art

J-GLOBAL ID：201802229615290894   Reference number：18A1188699

Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population

大規模均質日本人集団における肺動脈高血圧症の遺伝学【JST・京大機械翻訳】

Author (11)： Gamou S. (Kyorin University Center for Comprehensive Regional Collaboration, Tokyo, Japan) ,  Kataoka M. (Department of Cardiology, Keio University School of Medicine, Tokyo, Japan) ,  Aimi Y. (Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan) ,  Chiba T. (Department of Pathology, Kyorin University School of Medicine, Tokyo, Japan) ,  Momose Y. (Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan) ,  Isobe S. (Department of Cardiology, Keio University School of Medicine, Tokyo, Japan) ,  Hirayama T. (Department of Cardiology, Keio University School of Medicine, Tokyo, Japan) ,  Hirayama T. (Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan) ,  Yoshino H. (Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan) ,  Fukuda K. (Department of Cardiology, Keio University School of Medicine, Tokyo, Japan) ,  Satoh T. (Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan)
Material： Clinical Genetics  (Clin Genet)
Volume： 94  Issue： 1  Page： 70-80  Publication year： 2018 
JST Material Number： E0526B  ISSN： 0009-9163  Document type： Article
Article type： 文献レビュー  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Pulmonary arterial hypertensio...

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Thesaurus term： race ,  receptor ,  recurrence ,  forecast ,  mutation ,  patient ,  *heredity ,  *Japan ,  pathogenicity ,  gene ,  copy number ,  variation(biology) ,  *genetics ,  therapeutic planning
Semi thesaurus term： *日本人 , 【Automatic Indexing@JST】

Author keywords (9)： BMPR2 gene ,  copy number variation ,  dominant negative ,  exonic deletion ,  genetic anticipation ,  haplo-insufficiency ,  mutation ,  penetrance ,  pulmonary arterial hypertension

JST classification (2)： Cardiovascular system diseases  (GJ03000C) ,  Congenital diseases,deformities in general.  (GD03010V)

Terms in the title (5)： 大規模 ,  日本人 ,  集団 ,  肺動脈高血圧症 ,  遺伝学