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Article

Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.

Journal of human genetics - 1 Jan 2003

Yenchitsomanus Pa-Thai, Sawasdee Nunghathai, Paemanee Atchara, Keskanokwong Thitima, Vasuvattakul Somkiat, Bejrachandra Sasitorn, Kunachiwa Warunee, Fucharoen Supan, Jittphakdee Prapaporn, Yindee Wanwimon, Promwong Charupon

Abstract excerpt

We have previously demonstrated that compound heterozygous (SAO/G701D) and homozygous (G701D/G701D) mutations of the anion exchanger 1 (AE1) gene, encoding erythroid and kidney AE1 proteins, cause autosomal recessive distal renal tubular acidosis (AR dRTA) in Thai patients. It is thus of interest...

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Share to Acidosis, Renal Tubular
Share to Anion Exchange Protein 1, Erythrocyte

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12938018
DOI: 10.1007/s10038-003-0059-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12938018-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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