Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred.

A. H. Prowse, D. C. Schultz, S. Guo, L. Vanderveer, J. Dangel, B. Bove, P. Cairns, M. Daly, A. K. Godwin

Research output: Contribution to journalArticlepeer-review

23 Scopus citations
Original languageEnglish
Pages (from-to)e102
JournalJournal of Medical Genetics
Volume40
Issue number8
DOIs
StatePublished - Aug 2003

Keywords

  • Adult
  • Aged
  • Aged, 80 and over
  • BRCA1 Protein/genetics
  • BRCA2 Protein/genetics
  • Breast Neoplasms/genetics
  • Cells, Cultured
  • Child
  • Female
  • Gene Frequency
  • Genes, p16
  • Germ-Line Mutation
  • Humans
  • Male
  • Melanoma/genetics
  • Middle Aged
  • Mutation
  • Mutation, Missense
  • Neurofibroma/genetics
  • Pedigree
  • RNA Splice Sites/genetics
  • Tumor Suppressor Protein p14ARF/genetics

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