Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay

F. Nuzzo, E. M. Paraboschi, L. Straniero, A. Pavlova, S. Duga, E. Castoldi

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)140-147
JournalHaemophilia
Volume21
Issue number1
DOIs
Publication statusPublished - Jan 2015

Keywords

  • digital PCR (dPCR)
  • factor V deficiency
  • genetics
  • large deletion
  • multiplex ligation-dependent probe amplification (MLPA)
  • recombination

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