Rapid detection of 1078 delT mutation by PCR-mediated site-directed mutagenesis: detection of cystic fibrosis carriers in a celtic population

Clin Chem. 1994 Dec;40(12):2318-9.
No abstract available

MeSH terms

  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Mutational Analysis*
  • Gene Deletion
  • Genetic Carrier Screening*
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed*
  • Polymerase Chain Reaction*

Substances

  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator