Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Hum Mol Genet. 1993 Mar;2(3):317-9. doi: 10.1093/hmg/2.3.317.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons
  • Frameshift Mutation*
  • Haplotypes / genetics
  • Heterozygote
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data

Substances

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