Browsing Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences by Author "Abdelhak, Sonia"

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    • Article  

      Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance 

      Nagara, Majdi; Papagregoriou, Gregory; Ben Abdallah, Rim; Landoulsi, Zied; Bouyacoub, Yosra; Elouej, Sahar; Kefi, Rym; Pippucci, Tommaso; Voskarides, Konstantinos; Bashamboo, Anu; McElreavey, Kenneth; Hachicha, Mongia; Romeo, Giovanni; Seri, Marco; Deltas, Constantinos; Abdelhak, Sonia (2018)
      Aim of the study Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations ...