A de novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene

Genomics. 1991 Nov;11(3):778-9. doi: 10.1016/0888-7543(91)90092-s.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Codon / genetics*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Exons / genetics
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length

Substances

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