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Article

Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis.

Kidney international - 1 Jul 2002

Wrong Oliver, Bruce Lesley J, Unwin Robert J, Toye Ashley M, Tanner Michael J A

Abstract excerpt

Familial distal renal tubular acidosis (dRTA) and Southeast Asian ovalocytosis (SAO) may coexist in the same patient. Both can originate in mutations of the anion-exchanger 1 gene (AE1), which codes for band 3, the bicarbonate/chloride exchanger in both the red cell membrane and the basolateral membrane of the collecting tubule alpha-intercalated cell. Dominant dRTA is usually due to a mutation of the AE1 gene,...

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Share to Acidosis, Renal Tubular
Share to Amino Acid Sequence
Share to Anion Exchange Protein 1, Erythrocyte

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Asia, Southeastern

Share to Elliptocytosis, Hereditary

Share to Kidney Tubules, Collecting

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 12081559
DOI: 10.1046/j.1523-1755.2002.00417.x

Provenance

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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