Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

J Med Genet. 2003 Mar;40(3):220-2. doi: 10.1136/jmg.40.3.220.
No abstract available

Publication types

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

MeSH terms

  • Alternative Splicing / genetics*
  • DNA / genetics
  • DNA / metabolism
  • Exons / genetics
  • Humans
  • Introns / genetics
  • Mutation
  • Neurofibromin 1 / genetics*
  • Plasmids / genetics
  • RNA, Small Nuclear / genetics
  • RNA, Small Nuclear / metabolism
  • Transfection
  • Tumor Cells, Cultured

Substances

  • Neurofibromin 1
  • RNA, Small Nuclear
  • U1 small nuclear RNA
  • DNA