A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis

Hum Mutat. 1995;5(1):101-2. doi: 10.1002/humu.1380050115.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • Female
  • Heterozygote
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Phenotype
  • Polymerase Chain Reaction
  • RNA Splicing / genetics

Substances

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