A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation

Am J Hum Genet. 1992 May;50(5):1140-2.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Frameshift Mutation / genetics*
  • Heterozygote
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Spain

Substances

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