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Article

Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2006

Choo Keng E, Nicoli Taija K, Bruce Lesley J, Tanner Michael J A, Ruiz-Linares Andres, Wrong Oliver M

Abstract excerpt

Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive, caused either by homozygosity of a single AE1...

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Share to Acidosis, Renal Tubular
Share to Anion Exchange Protein 1, Erythrocyte
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16252102
DOI: 10.1007/s00467-005-2061-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16252102-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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