Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense

J Med Genet. 2000 Jul;37(7):E6. doi: 10.1136/jmg.37.7.e6.
No abstract available

Publication types

  • Letter

MeSH terms

  • Female
  • Genes, Retinoblastoma / genetics*
  • Germ-Line Mutation*
  • Heterozygote
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Penetrance*
  • Polymorphism, Single-Stranded Conformational
  • RNA Splicing / genetics*
  • RNA, Messenger / genetics
  • Retinoblastoma / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • RNA, Messenger