1154insTC is not a rare CFTR mutation

Am J Med Genet A. 2003 Jul 15;120A(2):294-5. doi: 10.1002/ajmg.a.20038.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation*
  • Gene Frequency
  • Genetic Testing
  • Heterozygote
  • Humans
  • Infant
  • Male

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator