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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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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Physiological Society
2014
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| Matèries: | |
| Accés en línia: | 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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