Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent

Hum Mol Genet. 1994 Apr;3(4):661-2. doi: 10.1093/hmg/3.4.661.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Armenia / ethnology
  • Base Sequence
  • Child, Preschool
  • Cystic Fibrosis / ethnology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Mutational Analysis
  • Electrophoresis, Polyacrylamide Gel
  • Ethnicity / genetics
  • Exons*
  • Female
  • France
  • Genes
  • Humans
  • Infant, Newborn
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction

Substances

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