Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure

Hum Mutat. 1996;7(2):151-4. doi: 10.1002/(SICI)1098-1004(1996)7:2<151::AID-HUMU10>3.0.CO;2-1.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Animals
  • Base Sequence
  • Chlorides / metabolism
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism
  • DNA Primers
  • Electrophysiology
  • Female
  • Gene Expression
  • Humans
  • Liver Failure / complications*
  • Molecular Sequence Data
  • Mutation*
  • Oocytes
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Xenopus

Substances

  • CFTR protein, human
  • Chlorides
  • DNA Primers
  • Cystic Fibrosis Transmembrane Conductance Regulator