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Article

Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Jul 2002

Yenchitsomanus Pa-thai, Vasuvattakul Somkiat, Kirdpon Sukachart, Wasanawatana Sirijitta, Susaengrat Wattanachai, Sreethiphayawan Suchai, Chuawatana Duangporn, Mingkum Sumitra, Sawasdee Nunghathai, Thuwajit Peti, Wilairat Prapon, Malasit Prida, Nimmannit Sumalee

Abstract excerpt

Anion exchanger 1 (AE1 or band 3), encoded by the AE1 or SLC4A1 gene, regulates chloride-bicarbonate exchange in erythrocytes and alpha-intercalated cells of the distal nephron. Defects of AE1 at the basolateral membrane of alpha-intercalated cells may result in the failure of hydrogen ion secretion at the apical membrane, leading to distal renal tubular acidosis (dRTA). Abnormalities of the AE1 gene were...

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Share to Acidosis, Renal Tubular
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12087557
DOI: 10.1053/ajkd.2002.33909

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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