A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy

Hum Mutat. 1999 Sep 19;14(3):272. doi: 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU18>3.0.CO;2-B.
No abstract available

MeSH terms

  • Child
  • Chromosomes, Human, Pair 7
  • Codon, Nonsense
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Humans
  • Italy
  • Mutation, Missense

Substances

  • CFTR protein, human
  • Codon, Nonsense
  • cystic fibrosis transmembrane conductance regulator delta F508
  • Cystic Fibrosis Transmembrane Conductance Regulator