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Article

Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene.

Nephron. Physiology - 1 Jan 2010

Anacleto Francisco E, Bruce Lesley J, Clayton Peter, Hegde Shivram, Resontoc Lourdes P, Wrong Oliver

Abstract excerpt

AIM: To describe the clinical features and genetic basis of distal renal tubular acidosis (dRTA) in Filipino children. METHODS: Clinical description and gene analysis of affected members of 7 families. RESULTS: In all affected children, the disease was associated with mutations of the SLC4A1 gene that codes for the bicarbonate/chloride anion-exchanger 1 (AE1, band 3) protein situated in the red cell membrane and...

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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 Elliptocytosis, Hereditary

Share to Erythrocyte Membrane

Share to Genes, Recessive

Share to Kidney Tubules, Collecting

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Source

Identifiers

PMID: 20068363
DOI: 10.1159/000274484

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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