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

  • Majdi Nagara
  • , Konstantinos Voskarides
  • , Sahar Elouej
  • , Apostolos Zaravinos
  • , Zied Riahi
  • , Gregory Papagregoriou
  • , Rym Kefi
  • , Khadija Boussetta
  • , Constantinos Deltas
  • , Sonia Abdelhak
  • , Faten Tinsa

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)859-863
Number of pages5
JournalJournal of Genetics
Volume93
Issue number3
Publication statusPublished - 2015

Keywords

  • ATP6V0A4
  • Distal renal tubular acidosis (dRTA)
  • Donor splice site
  • Novel mutation
  • Tunisian population

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