Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21

Hum Mol Genet. 1994 Apr;3(4):657-8. doi: 10.1093/hmg/3.4.657.
No abstract available

MeSH terms

  • Base Sequence
  • Child
  • Cystic Fibrosis / ethnology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Mutational Analysis
  • Exons
  • Female
  • Frameshift Mutation*
  • Genes
  • Humans
  • Jews / genetics
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Point Mutation*

Substances

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