Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8

Hum Mol Genet. 1993 Jul;2(7):1071-2. doi: 10.1093/hmg/2.7.1071.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • Exons
  • Frameshift Mutation*
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Sequence Deletion

Substances

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