Article
Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.
Genetic testing and molecular biomarkers - 1 Nov 2014
Nagara Majdi, Voskarides Konstantinos, Nouira Sonia, Ben Halim Nizar, Kefi Rym, Aloulou Hajer, Romdhane Lilia, Ben Abdallah Rim, Ben Rhouma Faten, Aissa Khaoula, Boughamoura Lamia, Kammoun Thouraya, Azzouz Hatem, Abroug Saoussen, Ben Turkia Hathemi, Ayadi Abdelkarim, Mrad Ridha, Chabchoub Imen, Hachicha Mongia, Chemli Jalel, Deltas Constantinos, Abdelhak Sonia
Abstract excerpt
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. METHODS: Twenty-two Tunisian families were analyzed for mutations in the ATP6V1B1 and...
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