1283 del A: a novel mutation in exon 8 of the cystic fibrosis gene

Hum Hered. 1997 May-Jun;47(3):173-5. doi: 10.1159/000154407.
No abstract available

MeSH terms

  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Exons / genetics*
  • Female
  • Frameshift Mutation / genetics*
  • France
  • Humans
  • Infant, Newborn
  • Male

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator