Identification of a new splice site mutation (3849 + 1G-->A) in the intron 19 of the CFTR gene

Hum Mol Genet. 1993 Dec;2(12):2171-2. doi: 10.1093/hmg/2.12.2171.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing*
  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Primers
  • Exons
  • Humans
  • Introns*
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • RNA, Messenger / biosynthesis
  • Transcription, Genetic

Substances

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