A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene

Genomics. 1992 Feb;12(2):417-8. doi: 10.1016/0888-7543(92)90396-a.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA, Recombinant
  • Exons
  • Genes, Regulator
  • Humans
  • Membrane Proteins / genetics

Substances

  • CFTR protein, human
  • DNA, Recombinant
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA