Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis

Hum Mutat. 1998:Suppl 1:S99-102. doi: 10.1002/humu.1380110133.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Child
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons / genetics
  • Family Health
  • Female
  • Heterozygote
  • Humans
  • Male
  • Microsatellite Repeats
  • Mutation
  • Pedigree
  • Point Mutation

Substances

  • CFTR protein, human
  • cystic fibrosis transmembrane conductance regulator delta F508
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA