Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients

Hum Mutat. 1998:Suppl 1:S78-80. doi: 10.1002/humu.1380110127.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Substitution
  • Base Sequence
  • Child
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • France
  • Humans
  • Male
  • Mutation
  • Point Mutation
  • Sequence Deletion

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA