A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin

Hum Mutat. 1996;7(4):374-5. doi: 10.1002/humu.1380070402.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Croatia
  • Cystic Fibrosis / ethnology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Exons*
  • Female
  • Humans
  • Mutation*
  • Polymorphism, Single-Stranded Conformational

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator