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J-GLOBAL ID：201802249391071033   Reference number：18A0472963

Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes

抗体陰性1型糖尿病のインシュリン必要とする89日本人小児における単一遺伝子糖尿病のための包括的スクリーニング【Powered by NICT】

Author (26)： Ushijima Kikumi (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Fukami Maki (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Ayabe Tadayuki (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Ayabe Tadayuki (Department of Pediatrics, Sanaikai General Hospital, Misato, Japan) ,  Narumi Satoshi (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Okuno Misako (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Okuno Misako (Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan) ,  Nakamura Akie (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Takahashi Toshikazu (Takahashi Clinic, Kobe, Japan) ,  Ihara Kenji (Department of Pediatrics, Oita University School of Medicine, Oita, Japan) ,  Ohkubo Kazuhiro (Department of Pediatrics, Kyushu University School of Medicine, Fukuoka, Japan) ,  Tachikawa Emiko (Department of Pediatrics, Tokyo Women’s Medical University Hospital, Tokyo, Japan) ,  Nakayama Shoji (Department of Pediatrics, Mominoki Hospital, Kochi, Japan) ,  Arai Junichi (Department of Pediatrics, Hosogi Hospital, Kochi, Japan) ,  Kikuchi Nobuyuki (Department of Pediatrics, Yokohama City Minato Red Cross Hospital, Yokohama, Japan) ,  Kikuchi Toru (Department of Pediatrics, Saitama Medical University Faculty of Medicine, Saitama, Japan) ,  Kawamura Tomoyuki (Department of Pediatrics, Osaka City University School of Medicine, Osaka, Japan) ,  Urakami Tatsuhiko (Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan) ,  Hata Kenichiro (Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Nakabayashi Kazuhiko (Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Matsubara Yoichi (Institute Director, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Amemiya Shin (Department of Pediatrics, Saitama Medical University Faculty of Medicine, Saitama, Japan) ,  Ogata Tsutomu (Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan) ,  Yokota Ichiro (Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, Shikoku Medical Center for Children and Adults, Kagawa, Japan) ,  Sugihara Shigetaka (Department of Pediatrics, Tokyo Women’s Medical University Medical Center East, Tokyo, Japan) ,  The Japanese Study Group of Insulin Therapy for Childhood and ...
Material： Pediatric Diabetes
Volume： 19  Issue： 2  Page： 243-250  Publication year： 2018 
JST Material Number： W2717A  ISSN： 1399-543X  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： BACKGROUND: Mutations in causa...

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Thesaurus term： *type 1 diabetes mellitus ,  phenotype ,  pathogenesis ,  *child ,  mutation ,  *screening(inspection) ,  *insulin ,  *heredity ,  genetic variation ,  patient ,  allele ,  copy number ,  autoantibody
Semi thesaurus term： 原因遺伝子 ,  *日本人 , 【Automatic Indexing@JST】

Author keywords (4)： HNF ,  INS ,  mutation ,  next-generation sequencing

JST classification (4)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Molecular genetics in general  (EC02010J) ,  Genetic variation  (EC01030Y) ,  Congenital diseases,deformities in general.  (GD03010V)

Terms in the title (7)： 抗体 ,  1型糖尿病 ,  インシュリン ,  日本人 ,  小児 ,  単一遺伝子糖尿病 ,  スクリーニング