A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene

Hum Mutat. 2001 Apr;17(4):356. doi: 10.1002/humu.50.
No abstract available

MeSH terms

  • Adult
  • Child, Preschool
  • Codon, Nonsense / genetics*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / physiopathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Exons / genetics*
  • Gene Frequency
  • Humans

Substances

  • CFTR protein, human
  • Codon, Nonsense
  • Cystic Fibrosis Transmembrane Conductance Regulator