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

BACKGROUND: Congenital chloride diarrhea (CCD) is characterized by persistent chloride (Cl)‐rich diarrhea evident from birth. CCD is a rare autosomal recessive disorder caused by defects in the solute carrier family 26 member 3 (SLC26A3) gene, which encodes an intestinal Cl(−)/HCO3(−), Na(+)‐indepen...

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Detalles Bibliográficos
Autores principales: Konishi, Ken‐ichiro, Mizuochi, Tatsuki, Honma, Hitoshi, Etani, Yuri, Morikawa, Kazue, Wada, Kazuko, Yamamoto, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667310/
https://www.ncbi.nlm.nih.gov/pubmed/32951339
http://dx.doi.org/10.1002/mgg3.1505

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