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J-GLOBAL ID：201802258022072498   Reference number：18A0522039

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

低ガンマグロブリン血症によるOAS1原因乳児期発症肺胞蛋白症におけるヘテロ接合性変異【Powered by NICT】

Author (20)： Cho Kazutoshi (Maternity and Perinatal Care Center, Hokkaido University Hospital, Sapporo 060-8648, Japan) ,  Yamada Masafumi (Department of Pediatrics, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo 060-8638, Japan) ,  Agematsu Kazunaga (Department of Infection and Host Defense, Graduate School of Medicine, Shinshu University, Matsumoto 390-8621, Japan) ,  Kanegane Hirokazu (Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8519, Japan) ,  Miyake Noriko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Ueki Masahiro (Department of Pediatrics, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo 060-8638, Japan) ,  Akimoto Takuma (Maternity and Perinatal Care Center, Hokkaido University Hospital, Sapporo 060-8648, Japan) ,  Kobayashi Norimoto (Department of Pediatrics, Shinshu University School of Medicine, Matsumoto 390-8621, Japan) ,  Ikemoto Satoru (Division of General Pediatrics, Saitama Children’s Medical Center, Saitama 330-8777, Japan) ,  Tanino Mishie (Department of Cancer Pathology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo 060-8638, Japan) ,  Fujita Atsushi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Hayasaka Itaru (Maternity and Perinatal Care Center, Hokkaido University Hospital, Sapporo 060-8648, Japan) ,  Miyamoto Satoshi (Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8519, Japan) ,  Tanaka-Kubota Mari (Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8519, Japan) ,  Nakata Koh (Bioscience Medical Research Center, Niigata University Medical & Dental Hospital, Niigata 951-8520, Japan) ,  Shiina Masaaki (Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Ogata Kazuhiro (Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Minakami Hisanori (Maternity and Perinatal Care Center, Hokkaido University Hospital, Sapporo 060-8648, Japan) ,  Matsumoto Naomichi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Ariga Tadashi (Department of Pediatrics, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo 060-8638, Japan)
Material： American Journal of Human Genetics  (AJHG)
Volume： 102  Issue： 3  Page： 480-486  Publication year： 2018 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Pulmonary alveolar proteinosis...

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Thesaurus term： dissimilation ,  phospholipid ,  DNA ,  Heredity ,  surfactant ,  dysfunction ,  gene ,  autosome ,  *pulmonary alveolus ,  missense mutation ,  *heterozygosity ,  *Dysgammaglobulinemia ,  *Genetic Variation
Semi thesaurus term： *variation(biology) ,  *肺胞蛋白症 ,  *発症 , 【Automatic Indexing@JST】

Author keywords (6)： 2′5′-oligoadenylate synthetase 1 ,  OAS1 ,  pulmonary alveolar proteinosis ,  PAP ,  hypogammaglobulinemia ,  alveolar macrophage

JST classification (2)： Respiratory system diseases  (GI03000Z) ,  Biophylaxis and immune systems in general  (ED01010F)

Terms in the title (7)： 低ガンマグロブリン血症 ,  原因 ,  乳児期 ,  発症 ,  肺胞蛋白症 ,  ヘテロ接合性 ,  変異