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

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References

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Acknowledgements

The authors are extremely grateful to the patients and their family whose participation made this work possible. The study was supported by the Tunisian Ministry of Health and the Ministry of Higher education and Scientific Research (LR11IPT05).

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Authors and Affiliations

  1. LR11IPT05, Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, 1002, Université de Tunis El Manar, 1068, Tunis, Tunisia

    MAJDI NAGARA, SAHAR ELOUEJ, ZIED RIAHI, RYM KEFI & SONIA ABDELHAK

  2. Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Kallipoleos 75, 1678, Nicosia, Cyprus

    KONSTANTINOS VOSKARIDES, APOSTOLOS ZARAVINOS, GREGORY PAPAGREGORIOU & CONSTANTINOS DELTAS

  3. Department of Pediatrics B, Children’s Hospital of Tunis, Boulevard 9 avril, Bab Saadoun, Jabbary, 1007, Tunis, Tunisia

    KHADIJA BOUSSETTA & FATEN TINSA

Authors
  1. MAJDI NAGARA
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  2. KONSTANTINOS VOSKARIDES
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  3. SAHAR ELOUEJ
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  4. APOSTOLOS ZARAVINOS
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  5. ZIED RIAHI
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  6. GREGORY PAPAGREGORIOU
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  7. RYM KEFI
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  8. KHADIJA BOUSSETTA
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  9. CONSTANTINOS DELTAS
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  10. SONIA ABDELHAK
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  11. FATEN TINSA
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Corresponding author

Correspondence to SONIA ABDELHAK.

Additional information

[Nagara M., Voskarides K., Elouej S., Zaravinos A., Riahi Z., Papagregoriou G., Kefi R., Boussetta K., Deltas C., Abdelhak S. and Tinsa F. 2014 A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family. J. Genet. 93, xx–xx]

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NAGARA, M., VOSKARIDES, K., ELOUEJ, S. et al. A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family. J Genet 93, 859–863 (2014). https://doi.org/10.1007/s12041-014-0450-4

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  • DOI: https://doi.org/10.1007/s12041-014-0450-4

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