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Article

Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.

Clinical genetics - 1 Mar 2013

Mohebbi N, Vargas-Poussou R, Hegemann S C A, Schuknecht B, Kistler A D, Wüthrich R P, Wagner C A

Abstract excerpt

Distal renal tubular acidosis (dRTA) is characterized by the inability to excrete acid in the renal collecting ducts resulting in inappropriately alkaline urine and hyperchloremic (normal anion gap) metabolic acidosis in the context of a normal (or near-normal) glomerular filtration rate. Inborn...

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Share to Acidosis, Renal Tubular
Share to Anion Exchange Protein 1, Erythrocyte
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22509993
DOI: 10.1111/j.1399-0004.2012.01891.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22509993-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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