A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

Abstract

1LR11IPT05, Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, 1002, Université de Tunis El Manar, 1068 Tunis, Tunisia 2Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Kallipoleos 75, 1678 Nicosia, Cyprus 3Department of Pediatrics B… (More)
DOI: 10.1007/s12041-014-0450-4

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@article{Nagara2014ANS, title={A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family}, author={Majdi Nagara and K Voskarides and Sahar Elouej and Apostolos Zaravinos and Zied Riahi and Gregory N Papagregoriou and Rym Kefi and Khadija Boussetta and Constantinos Deltas and Sonia Abdelhak and Faten Tinsa}, journal={Journal of Genetics}, year={2014}, volume={93}, pages={859-863} }