Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

J Med Genet. 2004 Nov;41(11):e118. doi: 10.1136/jmg.2004.022400.
No abstract available

Publication types

  • Evaluation Study

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Child
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis / methods*
  • Female
  • Gene Deletion*
  • Gene Duplication*
  • Genetic Counseling*
  • Humans
  • Infant
  • Male
  • Polymerase Chain Reaction
  • Time Factors

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator