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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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The Korean Society for Laboratory Medicine
2012
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| Materias: | |
| 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 |