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Article

Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.

American journal of physiology. Renal physiology - 1 Nov 2014

Zhang Jianning, Fuster Daniel G, Cameron Mary Ann, Quiñones Henry, Griffith Carolyn, Xie Xiao-Song, Moe Orson W

Abstract excerpt

Congenital distal renal tubular acidosis (RTA) from mutations of the B1 subunit of V-ATPase is considered an autosomal recessive disease. We analyzed a distal RTA kindred with a truncation mutation of B1 (p.Phe468fsX487) previously shown to have failure of assembly into the V1 domain of V-ATPase. All heterozygous carriers in this kindred have normal plasma HCO3- concentrations and thus evaded the diagnosis of...

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PMID: 25164082
DOI: 10.1152/ajprenal.00408.2014
PMCID: PMC4216985

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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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