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Article

A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2003

Sritippayawan Suchai, Kirdpon Sukachart, Vasuvattakul Somkiat, Wasanawatana Sirijitta, Susaengrat Watanachai, Waiyawuth Worawee, Nimmannit Sumalee, Malasit Prida, Yenchitsomanus Pa-thai

Abstract excerpt

Anion exchanger 1 (AE1 or SLC4A1) mutations have been reported to cause distal renal tubular acidosis (dRTA), a disease characterized by impaired acid excretion in the distal nephron. We have recently demonstrated homozygous AE1 G701D mutation as a common molecular defect of autosomal recessive (AR) dRTA in a group of Thai pediatric patients. In the present work, we discovered a de novo heterozygous AE1 R589C...

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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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Share to Kidney Function Tests

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Identifiers

PMID: 12750988
DOI: 10.1007/s00467-003-1112-6

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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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