SLC26A3 mutations in congenital chloride diarrhea

@article{Mkel2002SLC26A3MI,
  title={SLC26A3 mutations in congenital chloride diarrhea},
  author={S. M{\"a}kel{\"a} and J. Kere and C. Holmberg and P. H{\"o}glund},
  journal={Human Mutation},
  year={2002},
  volume={20}
}
Congenital chloride diarrhea (CLD) is an autosomal recessive disorder of intestinal electrolyte absorption. It is characterized by persistent secretory diarrhea resulting in polyhydramnios and prematurity prenatally, and dehydration, hypoelectrolytemia, hyperbilirubinemia, abdominal distention, and failure to thrive immediately after birth. CLD is caused by mutations in the solute carrier family 26, member 3 gene (SLC26A3, alias CLD or DRA), which encodes a Na+‐independent Cl−/HCO3− (or OH… Expand
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