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J-GLOBAL ID：201702268562318228   Reference number：17A0988594

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

軽度の学習障害への小児致死からの可変表現型を有するPIGO欠乏の表現型-遺伝子型相関【Powered by NICT】

Author (23)： Tanigawa Junpei (Department of Pediatrics, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan) ,  Mimatsu Haruka (Division of Neonatology Center for Maternal-Neonatal Care, Nagoya University Hospital, Nagoya, Aichi, Japan) ,  Mizuno Seiji (Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Okamoto Nobuhiko (Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan) ,  Fukushi Daisuke (Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Tominaga Koji (Department of Pediatrics, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan) ,  Tominaga Koji (Department of Child Development, United Graduate School of Child Development, Osaka University, Suita, Osaka, Japan) ,  Kidokoro Hiroyuki (Department of Pediatrics, Nagoya University Hospital, Nagoya, Aichi, Japan) ,  Muramatsu Yukako (Division of Neonatology Center for Maternal-Neonatal Care, Nagoya University Hospital, Nagoya, Aichi, Japan) ,  Nishi Eriko (Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Nakamura Shota (Department of Infection Metagenomics, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan) ,  Motooka Daisuke (Department of Infection Metagenomics, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan) ,  Nomura Noriko (Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Hayasaka Kiyoshi (Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Yamagata, Japan) ,  Niihori Tetsuya (Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Miyagi, Japan) ,  Aoki Yoko (Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Miyagi, Japan) ,  Nabatame Shin (Department of Pediatrics, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan) ,  Hayakawa Masahiro (Division of Neonatology Center for Maternal-Neonatal Care, Nagoya University Hospital, Nagoya, Aichi, Japan) ,  Natsume Jun (Department of Developmental Disability Medicine and Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan) ,  Ozono Keiichi (Department of Pediatrics, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan) ,  Kinoshita Taroh (Department of Immunoregulation, Research Institute for Microbial Diseases Osaka University, Suita, Osaka, Japan) ,  Wakamatsu Nobuaki (Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Murakami Yoshiko (Department of Immunoregulation, Research Institute for Microbial Diseases Osaka University, Suita, Osaka, Japan)
Material： Human Mutation
Volume： 38  Issue： 7  Page： 805-815  Publication year： 2017 
JST Material Number： W2601A  ISSN： 1059-7794  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Inherited GPI (glycosylphospha...

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Thesaurus term： biosynthesis ,  *Genotype ,  flow cytometry ,  amentia ,  *gene ,  *Heredity ,  *child ,  function analysis ,  *Phenotype ,  spectrum ,  Hirschsprung disease ,  Japanese ,  Glycosylphosphatidylinositols ,  Genetic Variation
Semi thesaurus term： variation(biology) ,  重症度 , 【Automatic Indexing@JST】

Author keywords (5)： epilepsy ,  glycosylphosphatidylinositol (GPI) ,  Hirschsprung disease ,  inherited glycosylphosphatidylinositol deficiency (IGD) ,  PIGO

JST classification (1)： Biological function  (EB03040U)

Terms in the title (6)： 軽度 ,  学習障害 ,  小児 ,  可変 ,  表現型 ,  欠乏