Browsing by Subject "ATP6V0A4 protein, human"
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Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations (2014)BACKGROUND: Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant ...
A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family (2015)