A novel aberrant splice site mutation in the APC gene

J Med Genet. 2002 Oct;39(10):754-7. doi: 10.1136/jmg.39.10.754.
No abstract available

Publication types

  • Letter
  • Multicenter Study

MeSH terms

  • Adenomatous Polyposis Coli / genetics
  • Adenomatous Polyposis Coli Protein / genetics
  • Adolescent
  • Adult
  • Age of Onset
  • Alternative Splicing / genetics
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Female
  • Genes, APC*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • RNA Splice Sites / genetics*
  • Retrospective Studies

Substances

  • Adenomatous Polyposis Coli Protein
  • RNA Splice Sites