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J-GLOBAL ID:201702268562318228   整理番号:17A0988594

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】

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties
著者 (23件):
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)

資料名:
Human Mutation  (Human Mutation)

巻: 38  号:ページ: 805-815  発行年: 2017年 
JST資料番号: W2601A  ISSN: 1059-7794  資料種別: 逐次刊行物 (A)
記事区分: 原著論文  発行国: アメリカ合衆国 (USA)  言語: 英語 (EN)
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