Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome

J Med Genet. 2000 May;37(5):387-9. doi: 10.1136/jmg.37.5.387.
No abstract available

Publication types

  • Letter

MeSH terms

  • Alternative Splicing*
  • Base Sequence
  • DNA, Complementary / genetics
  • Humans
  • Introns / genetics
  • Molecular Sequence Data
  • Oxidoreductases / genetics*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Point Mutation*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Smith-Lemli-Opitz Syndrome / genetics*

Substances

  • DNA, Complementary
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase

Associated data

  • GENBANK/AF132981