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

  • H. Scheffer*
  • , P. Van Der Vlies
  • , M. Burton
  • , E. Verlind
  • , A. C. Moll
  • , S. M. Imhof
  • , C. H. Buys
  • *Corresponding author for this work

Research output: Contribution to journalLetterAcademicpeer-review

24 Citations (Scopus)
Original languageEnglish
JournalJournal of Medical Genetics
Volume37
Issue number7
Publication statusPublished - 1 Jul 2000

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