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

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 V(1) domain of V-ATPase....

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Detalhes bibliográficos
Main Authors: Zhang, Jianning, Fuster, Daniel G., Cameron, Mary Ann, Quiñones, Henry, Griffith, Carolyn, Xie, Xiao-Song, Moe, Orson W.
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiological Society 2014
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4216985/
https://ncbi.nlm.nih.gov/pubmed/25164082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajprenal.00408.2014
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