Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients

Hum Mutat. 1992;1(1):75-6. doi: 10.1002/humu.1380010113.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Codon / genetics
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Exons
  • Frameshift Mutation*
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides
  • Polymerase Chain Reaction / methods
  • Sequence Deletion
  • Spain / ethnology

Substances

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