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Article

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.

Nature genetics - 1 Nov 1996

Höglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg M L, Airola K, Holmberg C, de la Chapelle A, Kere J

Abstract excerpt

A major transport function of the human intestine involves the absorption of chloride in exchange for bicarbonate. We have studied a recessively inherited defect of this exchange, congenital chloride diarrhoea (CLD; MIM 214700). The clinical presentation of CLD is a lifetime, potentially fatal diarrhoea with a high chloride content. The CLD locus was previously mapped to 7q3 adjacent to the cystic fibrosis gene...

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Identifiers

PMID: 8896562
DOI: 10.1038/ng1196-316

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.PMID 8896562Read ↗

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