A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient

Hum Mutat. 2000 Dec;16(6):532-3. doi: 10.1002/1098-1004(200012)16:6<532::AID-HUMU20>3.0.CO;2-E.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution / genetics*
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Exocrine Pancreatic Insufficiency / genetics
  • Exons / genetics*
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Phenotype
  • Pneumonia, Bacterial / genetics
  • Staphylococcal Infections / genetics
  • Tryptophan* / genetics

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Tryptophan