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Article

SLC26A3 and congenital chloride diarrhoea.

Novartis Foundation symposium - 1 Jan 2006

Höglund Pia

Abstract excerpt

Congenital chloride diarrhoea (CLD, OMIM214700) is a rare genetic disease caused by mutations in a plasma membrane protein, the solute-linked carrier family 26 member A3 (SLC26A3) protein, which encodes for an epithelial anion exchanger for Cl- and HCO3-. The main clinical symptom is a lifetime watery diarrhoea with a high Cl- content and low pH, causing dehydration and hypochloremic metabolic alkalosis. CLD may...

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PMID: 17120762

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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