A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.

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作者： Ken-Ichiro,Konishi ^[1] ; Tatsuki,Mizuochi ^[2] ; Hitoshi,Honma ^[1] ; Yuri,Etani ^[3] ; Kazue,Morikawa ^[3] ; Kazuko,Wada ^[4] ; Ken,Yamamoto ^[4]

作者单位： Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan. ^[1] Department of Pediatric Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. ^[2] Department of Gastroenterology and Endocrinology, Osaka Women's and Children's Hospital, Osaka, Japan. ^[3] Department of Neonatal Medicine, Osaka Women's and Children's Hospital, Osaka, Japan. ^[4] Department of Medical Biochemistry, Kurume University School of Medicine, Kurume, Japan. ^[5]

主题词氯化重碳酸反向转运物(Chloride-Bicarbonate Antiporters);腹泻(Diarrhea);人类(Humans);婴儿, 新生(Infant, Newborn);男(雄)性(Male);代谢缺陷, 先天性(Metabolism, Inborn Errors);突变(Mutation)

DOI 10.1002/mgg3.1505

PMID 32951339

发布时间 2021-06-07

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Molecular genetics & genomic medicine

2020年8卷11期

e1505页

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A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

相关期刊

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