Skipping of exon 5 as a consequence of the 711 + 1 G-->T mutation in the CFTR gene

Hum Mol Genet. 1992 Jul;1(4):281-2. doi: 10.1093/hmg/1.4.281.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons
  • Humans
  • Lymphocytes / metabolism
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • RNA Splicing / genetics
  • RNA, Messenger / genetics

Substances

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