A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea

J Pediatr Gastroenterol Nutr. 2008 Sep;47(3):363-6. doi: 10.1097/MPG.0b013e318174e818.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Antiporters / genetics*
  • Chloride-Bicarbonate Antiporters
  • Chlorides / metabolism*
  • Codon, Nonsense*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Diarrhea / congenital
  • Diarrhea / diagnosis
  • Diarrhea / genetics*
  • Female
  • Gene Expression
  • Genes, Recessive
  • Humans
  • Sulfate Transporters

Substances

  • Antiporters
  • Chloride-Bicarbonate Antiporters
  • Chlorides
  • Codon, Nonsense
  • SLC26A3 protein, human
  • Sulfate Transporters
  • DNA