A novel nonsense mutation, S466Xa in exon 10 of the cystic fibrosis transmembrane conductance regulator gene

Hum Mutat. 1996;8(4):392-3. doi: 10.1002/humu.1380080402.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / physiopathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Exons
  • Female
  • Humans
  • Point Mutation*
  • Polymerase Chain Reaction

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator