Identification of two novel mutations (296 + 1G-C and A46D) in exon 2 of the CFTR gene in Greek cystic fibrosis patients

Mol Cell Probes. 1995 Aug;9(4):283-5. doi: 10.1016/s0890-8508(95)90169-8.

Abstract

Two novel CFTR mutations were detected in Greek cystic fibrosis patients. One was a missense mutation, A46D, and the other a splice mutation, 296 + 1G-C. Neither was detected on normal chromosomes.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Exons
  • Female
  • Greece
  • Humans
  • Male
  • Mutation
  • RNA Splicing

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator