[Interference of P1290 P polymorphism (4002 A--> G) in molecular diagnosis of mucoviscidosis using the cystic fibrosis assay: an example of a diagnostic trap]

Ann Biol Clin (Paris). 1999 Nov-Dec;57(6):741-2.
[Article in French]
No abstract available

Publication types

  • Comparative Study
  • Letter

MeSH terms

  • Alleles
  • Child
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Electrophoresis, Polyacrylamide Gel
  • Exons / genetics
  • Gene Amplification
  • Genetic Carrier Screening
  • Heterozygote
  • Homozygote
  • Humans
  • Mutation
  • Oligonucleotide Probes
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*

Substances

  • CFTR protein, human
  • Oligonucleotide Probes
  • Cystic Fibrosis Transmembrane Conductance Regulator