Art

J-GLOBAL ID：201702240727555616   Reference number：17A0205704

A Novel Compound Heterozygous Mutation in Glucose-6-Phosphatase Gene in a Chinese Patient with Glycogen Storage Disease Ia

ブドウ糖-6-ホスファターゼ突然変異を含む複合ヘテロ接合突然変異による華人グリコーゲン蓄積症Ia型の遺伝的特徴【JST・京大機械翻訳】

Author (8)： Li Jingyi (Department of Internal Medicine, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College) ,  Xu Lijun (Department of Endocrinology,Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College) ,  Jiang Yan (Department of Endocrinology,Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College) ,  Qiu Zhengqing (Department of Paediatrics, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College) ,  Yao Fengxia (Laboratory of Clinical Genetics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College) ,  Li Wenhui (Department of Endocrinology,Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College) ,  Xiao Xinhua (Department of Endocrinology,Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College) ,  Xing Xiaoping (Department of Endocrinology,Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College)
Material： Xiehe Yixue Zazhi  (Medical Journal of Peking Union)
Volume： 7  Issue： 4  Page： 264-268  Publication year： 2016 
JST Material Number： C3153A  ISSN： 1674-9081  Document type： Article
Article type： 原著論文  Country of issue： China (CHN)  Language： CHINESE (ZH)

Abstract/Point： Objective To analyze the clini...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=17A0205704&from=J-GLOBAL&jstjournalNo=C3153A") }}

Thesaurus term： *mutation ,  hyperuricemia ,  glycogenosis ,  man ,  pathogenicity ,  patient ,  hypoglycemia ,  peripheral blood ,  *glycogen ,  heterojunction ,  medical record ,  DNA ,  *heredity ,  missense mutation
Semi thesaurus term： *グルコース-6-ホスファターゼ , 【Automatic Indexing@JST】

Author keywords (3)： glycogen storage disease ,  glucose-6-phosphatase ,  gene mutation

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J)

Terms in the title (8)： ブドウ糖 ,  ホスファターゼ ,  突然変異 ,  ヘテロ接合 ,  華人 ,  グリコーゲン蓄積症 ,  IA ,  遺伝