A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma

J Med Genet. 2002 May;39(5):E21. doi: 10.1136/jmg.39.5.e21.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Exons
  • Female
  • Genes, Retinoblastoma*
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Infant
  • Male
  • Pedigree
  • Penetrance
  • Point Mutation*
  • Pyrimidine Nucleotides / genetics
  • RNA Splice Sites*
  • RNA, Neoplasm / analysis
  • Retinoblastoma / genetics*
  • Retinoblastoma / metabolism
  • Retinoblastoma Protein / genetics*

Substances

  • Pyrimidine Nucleotides
  • RNA Splice Sites
  • RNA, Neoplasm
  • Retinoblastoma Protein