A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene

Hum Mol Genet. 1992 May;1(2):123-5. doi: 10.1093/hmg/1.2.123.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA
  • DNA Mutational Analysis
  • Exons*
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation*

Substances

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