Art

J-GLOBAL ID：202002256080052568   Reference number：20A1044786

Clinical and genetic analysis in a family with familial renal glucosuria: Identification of an N101K mutation in the sodium-glucose cotransporter 2 encoded by a solute carrier family 5 member 2 gene

家族性腎性糖尿の家族の臨床的分析と遺伝的分析:溶質輸送体ファミリー5メンバー2遺伝子によりコードされるナトリウム-グルコース共輸送体2におけるN101K変異の同定

Author (9)： Sada Kentaro (Department of Diabetes and Metabolism, Koseiren Tsurumi Hospital, Oita, Japan) ,  Hidaka Shuji (Department of Diabetes and Metabolism, Koseiren Tsurumi Hospital, Oita, Japan) ,  Imaishi Nao (Department of Diabetes and Metabolism, Koseiren Tsurumi Hospital, Oita, Japan) ,  Shibata Kohei (Department of Gastrointestinal Surgery, Koseiren Tsurumi Hospital, Oita, Japan) ,  Katashima Rumi (Laboratory for Pediatric Genome Medicine, Department of Clinical Research, National Hospital Organization Shikoku Medical Center for Children and Adults, Kagawa, Japan) ,  Noso Shinsuke (Department of Endocrinology, Metabolism and Diabetes, Faculty of Medicine, Kindai University, Osaka, Japan) ,  Ikegami Hiroshi (Department of Endocrinology, Metabolism and Diabetes, Faculty of Medicine, Kindai University, Osaka, Japan) ,  Kakuma Tetsuya (Department of Health Support Center, Oita University, Oita, Japan) ,  Shibata Hirotaka (Department of Endocrinology, Metabolism, Rheumatology and Nephrology, Faculty of Medicine, Oita University, Oita, Japan)
Material： Journal of Diabetes Investigation (Web)  (JDI (Web))
Volume： 11  Issue： 3  Page： 573-577  Publication year： 2020 
JST Material Number： U0507A  ISSN： 2040-1124  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *SLC5A2 ,...

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Author keywords (3)： Familial renal glucosuria ,  Sodium-glucose cotransporter 2 ,  Solute carrier family 5 member 2

JST classification (3)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Urogenital diseases  (GM03000L)

Terms in the title (14)： 家族 ,  腎性糖尿 ,  臨床 ,  分析 ,  溶質 ,  輸送体 ,  ファミリー ,  メンバー ,  遺伝子 ,  ナトリウム ,  グルコース ,  共輸送体 ,  変異 ,  同定