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J-GLOBAL ID：201702283344433990   Reference number：17A0536499

Analysis of Genotype-Phenotype in Family Patients Carried with R566X Mutation in ENaC

腎ΒサブユニットR566X突然変異の特徴についての家系解析【JST・京大機械翻訳】

Author (12)： Zou Yubao (Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College) ,  Song Lei (Hypertension Center, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College) ,  Jiang Xiongjing (Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College) ,  Sun Xiaolu (Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College) ,  Liu Kai (Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College) ,  Che Wuqiang (Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College) ,  Dong Hui (Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College) ,  Zhou Xianliang (Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College) ,  Wu Haiying (Hypertension Center, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College) ,  Zhang Huimin (Hypertension Center, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College) ,  Hui Rutai (State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College) ,  Wang Jizheng (State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College)
Material： Zhongguo Fenzi Xinzangbingxue Zazhi  (Molecular Cardiology of China)
Volume： 16  Issue： 6  Page： 1881-1884  Publication year： 2016 
JST Material Number： C3155A  ISSN： 1671-6272  Document type： Article
Article type： 原著論文  Country of issue： China (CHN)  Language： CHINESE (ZH)

Abstract/Point： Objective To describe the char...

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Thesaurus term： genotype ,  gene diagnosis ,  coding(signal) ,  *pedigree ,  nuclear power plant ,  phenotype ,  patient ,  polymerase chain reaction ,  gene ,  optimization ,  *mutation ,  heterogeneity ,  father
Semi thesaurus term： 候補遺伝子 ,  臨床データ , 【Automatic Indexing@JST】

Author keywords (4)： ENaC ,  Gene Mutation ,  Liddle ’s Syndrome ,  Primary Aldosteronism

JST classification (2)： Genetic variation  (EC01030Y) ,  Diagnostics of congenital diseases, deformities.  (GD03020G)

Terms in the title (5)： 腎 ,  βサブユニット ,  突然変異 ,  家系 ,  解析