Identification of a novel splicesite mutation of the BRCAL gene in two breast cancer families: Screening reveals low frequency in icelandic breast cancer patients

Jon Thor Bergthorsson, Adàlbjorg Jonasdottir, Gudrun Johannesdottir, Adalgeir Arason, Valgardur Egilsson, Simon Gayther, Ake Borg, Sara Hakanson, Sigurdur Ingvarsson, Rosa Bjork Barkardottir

Research output: Contribution to journalArticlepeer-review

32 Scopus citations
Original languageEnglish (US)
Pages (from-to)S195-S197
JournalHuman mutation
Volume11
Issue numberSUPPL 1
DOIs
StatePublished - 1998
Externally publishedYes

Keywords

  • BRCAl
  • Familial breast cancer
  • Splice site mutation
  • SSCP screening

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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