Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G

Hum Mutat. 1994;3(3):330-2. doi: 10.1002/humu.1380030329.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Primers
  • Exons
  • Frameshift Mutation*
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction / methods

Substances

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