A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

J Med Genet. 2001 Dec;38(12):863-7. doi: 10.1136/jmg.38.12.863.
No abstract available

Publication types

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

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli / pathology
  • Adenomatous Polyposis Coli Protein / chemistry
  • Adenomatous Polyposis Coli Protein / genetics
  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Alternative Splicing / genetics*
  • Arginine / genetics
  • Child
  • Child, Preschool
  • Codon / genetics
  • Exons / genetics*
  • Female
  • Genes, APC*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Point Mutation / genetics*
  • Protein Isoforms / chemistry
  • Protein Isoforms / genetics

Substances

  • Adenomatous Polyposis Coli Protein
  • Codon
  • Protein Isoforms
  • Arginine

Grants and funding