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https://www.ias.ac.in/article/fulltext/jgen/093/03/0859-0863

distal renal tubular acidosis (dRTA); novel mutation; ATP6V0A4; Tunisian population; donor splice site.

Majdi Nagara¹ Konstantinos Voskarides² Sahar Elouej¹ Apostolos Zaravinos² Zied Riahi¹ Gregory Papagregoriou² Rym Kefi¹ Khadija Boussetta³ Constantinos Deltas² Sonia Abdelhak¹ Faten Tinsa³

1. LR11IPT05, Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, 1002, Université de Tunis El Manar, 1068 Tunis, Tunisia
2. Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Kallipoleos 75, 1678 Nicosia, Cyprus
3. Department of Pediatrics B, Children’s Hospital of Tunis, Boulevard 9 avril, Bab Saadoun, Jabbary, 1007 Tunis, Tunisia

Published

December 2014

Manuscript received

31 January 2014

Manuscript revised

2 July 2014

Accepted

7 July 2014

Unedited version published online

10 July 2014

Early published

10 December 2014