Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent

Hum Mol Genet. 1993 Oct;2(10):1739-40. doi: 10.1093/hmg/2.10.1739.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chloride Channels / genetics*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Mutational Analysis
  • Exons
  • Genes*
  • Humans
  • Italy
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Point Mutation*

Substances

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