Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance

Am J Hum Genet. 2004 Jun;74(6):1322-5. doi: 10.1086/420978.
No abstract available

Publication types

  • Comment
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Dinucleotide Repeats / genetics
  • Exons / genetics*
  • Genetic Variation / genetics*
  • Genotype
  • Humans
  • Introns / genetics
  • Mutation / genetics*
  • Penetrance
  • Phenotype

Substances

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