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Article

A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.

Pediatrics - 1 Dec 2003

Cheidde Lara, Vieira Teresa Cristina, Lima Paulo Roberto Moura, Saad Sara Teresinha Ollala, Heilberg Ita Pfeferman

Abstract excerpt

OBJECTIVE: The anion exchanger gene (AE1) or band 3 encodes a chloride-bicarbonate (Cl(-)/HCO(3)(-)) exchanger expressed in the erythrocyte and in the renal alpha-intercalated cells involved in urine acidification. The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers (10 and 15 years of age) with familial distal renal tubular acidosis (dRTA), nephrocalcinosis, and failure to...

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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

Share to Failure to Thrive

Share to Genes, Dominant

Share to Nephrocalcinosis

Share to Pedigree

Share to Polymorphism, Single-Stranded Conformational

Share to Sequence Deletion

Source

Identifiers

PMID: 14654610
DOI: 10.1542/peds.112.6.1361

Provenance

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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