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Article

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

The Journal of clinical investigation - 1 Oct 1997

Bruce L J, Cope D L, Jones G K, Schofield A E, Burley M, Povey S, Unwin R J, Wrong O, Tanner M J

Abstract excerpt

All affected patients in four families with autosomal dominant familial renal tubular acidosis (dRTA) were heterozygous for mutations in their red cell HCO3-/Cl- exchanger, band 3 (AE1, SLC4A1) genes, and these mutations were not found in any of the nine normal family members studied. The mutation Arg589--> His was present in two families, while Arg589--> Cys and Ser613--> Phe changes were found in the other...

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Identifiers

PMID: 9312167
DOI: 10.1172/JCI119694
PMCID: PMC508352

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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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Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.PMID 9312167Read ↗

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Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene.Semantic proximity Read ↗

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