Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers

J Med Genet. 2003 Jul;40(7):e88. doi: 10.1136/jmg.40.7.e88.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing / genetics*
  • Base Sequence
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis / methods
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Enhancer Elements, Genetic / genetics*
  • Exons / genetics*
  • Family Health
  • Female
  • Genotype
  • Humans
  • Mutation
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Sequence Deletion
  • Transcription, Genetic / genetics*

Substances

  • CFTR protein, human
  • DNA, Complementary
  • RNA, Messenger
  • Cystic Fibrosis Transmembrane Conductance Regulator

Associated data

  • OMIM/219700
  • OMIM/602421