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

J Genet. 2014 Dec;93(3):859-63. doi: 10.1007/s12041-014-0450-4.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Renal Tubular / genetics*
  • Acidosis, Renal Tubular / physiopathology
  • Adult
  • Child
  • Consanguinity
  • DNA Mutational Analysis
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Mutation*
  • RNA Splice Sites / genetics*
  • Siblings
  • Tunisia
  • Vacuolar Proton-Translocating ATPases / genetics*

Substances

  • RNA Splice Sites
  • ATP6V0A4 protein, human
  • Vacuolar Proton-Translocating ATPases