Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays

Eur J Hum Genet. 2005 Feb;13(2):136-8. doi: 10.1038/sj.ejhg.5201261.
No abstract available

Publication types

  • Letter

MeSH terms

  • Alleles
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Mutational Analysis
  • Genotype
  • Heterozygote
  • Humans
  • Introns / genetics*
  • Mutation / genetics*
  • RNA Splicing / genetics*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator