A cystic fibrosis patient with delta F508, G542X and a deletion at the D7S8 locus

Hum Mutat. 1994;3(3):327-9. doi: 10.1002/humu.1380030328.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Primers
  • Deoxyribonuclease HpaII
  • Deoxyribonucleases, Type II Site-Specific
  • Exons
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Sequence Deletion*

Substances

  • CFTR protein, human
  • DNA Primers
  • Genetic Markers
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Deoxyribonuclease HpaII
  • Deoxyribonucleases, Type II Site-Specific