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Article

ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.

Renal failure - 1 Oct 2013

Subasioglu Uzak Asli, Cakar Nilgun, Comak Elif, Yalcinkaya Fatos, Tekin Mustafa

Abstract excerpt

Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis and nephrolithiasis. Mutations in ATP6V1B1 cause DRTA associated with sensorineural hearing loss....

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Identifiers

PMID: 23923981
DOI: 10.3109/0886022X.2013.824362
PMCID: PMC5483946

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23923981-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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