- Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea
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Lee ES, Cho AR, Ki CS
- KMID: 1380094
- Ann Lab Med.
- 2012 Jul;32(4):312-315.
- doi: 10.3343/alm.2012.32.4.312
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,... -
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