A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis

Dig Dis Sci. 2007 Oct;52(10):2784-7. doi: 10.1007/s10620-007-9779-3. Epub 2007 Apr 5.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli / pathology
  • Colonoscopy
  • DNA, Neoplasm / genetics*
  • Exons
  • Female
  • Follow-Up Studies
  • Genes, APC*
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype
  • RNA Splice Sites / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • DNA, Neoplasm
  • RNA Splice Sites