Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations
Genetic testing and molecular biomarkers, Volume 18, No. 11, Year 2014
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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 and recessive forms have been described; the latter is also associated with sensorineural hearing loss.