Browsing Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences by Author "Abdelhak, S."
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Article
Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations
Nagara, Majdi; Voskarides, Konstantinos; Nouira, S.; Ben Halim, N.; Kefi Ben Atig, Rym; Aloulou, Hajer; Romdhane, L.; Ben Abdallah, R.; Ben Rhouma, F.; Aissa, K.; Boughamoura, L.; Kammoun, T.; Azzouz, H.; Abroug, S.; Ben Turkia, H.; Ayadi, A.; Mrad, R.; Chabchoub, I.; Hachicha, M.; Chemli, J.; Constantinou-Deltas, Constantinos D.; Abdelhak, S. (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 ...
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Article
A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family
Nagara, Majdi; Voskarides, Konstantinos; Elouej, S.; Zaravinos, Apostolos; Riahi, Zied; Papagregoriou, Gregory N.; Kefi Ben Atig, Rym; Boussetta, Khadija; Constantinou-Deltas, Constantinos D.; Abdelhak, S.; Tinsa, Faten (2015)