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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 to examine the prevalence of these mutations in the Thai population. The SAO and G701D mutations were examined in 844...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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