Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea

Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl(-)-rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene, which encodes a coupled Cl(-)/HCO(3)(-) exchanger in the ileum and colon, are known to caus...

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Detalles Bibliográficos
Autores principales: Lee, Eun-Sil, Cho, Ah Ra, Ki, Chang-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3384816/
https://www.ncbi.nlm.nih.gov/pubmed/22779076
http://dx.doi.org/10.3343/alm.2012.32.4.312

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3384816/
https://www.ncbi.nlm.nih.gov/pubmed/22779076
http://dx.doi.org/10.3343/alm.2012.32.4.312

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