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

Konishi, Ken-Ichiro; Mizuochi, Tatsuki; Honma, Hitoshi; Etani, Yuri; Morikawa, Kazue; Wada, Kazuko; Yamamoto, Ken

Konishi, Ken-Ichiro; Mizuochi, Tatsuki; Honma, Hitoshi; Etani, Yuri; Morikawa, Kazue; Wada, Kazuko; Yamamoto, Ken.

Afiliação

Konishi KI; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
Mizuochi T; Department of Pediatric Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Honma H; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
Etani Y; Department of Gastroenterology and Endocrinology, Osaka Women's and Children's Hospital, Osaka, Japan.
Morikawa K; Department of Gastroenterology and Endocrinology, Osaka Women's and Children's Hospital, Osaka, Japan.
Wada K; Department of Neonatal Medicine, Osaka Women's and Children's Hospital, Osaka, Japan.
Yamamoto K; Department of Neonatal Medicine, Osaka Women's and Children's Hospital, Osaka, Japan.

Mol Genet Genomic Med ; 8(11): e1505, 2020 11.

Article em En | MEDLINE | ID: mdl-32951339

Assuntos

Antiportadores de Cloreto-Bicarbonato/genética; Diarreia/congênito; Erros Inatos do Metabolismo/genética; Mutação; Transportadores de Sulfato/genética; Diarreia/genética; Diarreia/patologia; Humanos; Recém-Nascido; Masculino; Erros Inatos do Metabolismo/patologia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Antiportadores de Cloreto-Bicarbonato / Diarreia / Transportadores de Sulfato / Erros Inatos do Metabolismo / Mutação Limite: Humans / Male / Newborn Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão

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