Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A

Hum Mutat. 1994;4(3):224-6. doi: 10.1002/humu.1380040309.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Child
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Mutational Analysis
  • Female
  • Genotype
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Polymerase Chain Reaction
  • RNA Splicing / genetics
  • Sequence Deletion

Substances

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