A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male

Hum Mutat. 2000 May;15(5):486. doi: 10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU25>3.0.CO;2-S.
No abstract available

Publication types

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

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Adult
  • Amino Acid Substitution / genetics*
  • Animals
  • Cysteine / genetics
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Exons / genetics*
  • Humans
  • Male
  • Mice
  • Mutation, Missense / genetics*
  • Rats
  • Tyrosine / genetics

Substances

  • ATP-Binding Cassette Transporters
  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Tyrosine
  • Cysteine