Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma

E. Castoldi, C. Duckers, Claudia M. Radu, Luca Spiezia, V. Rossetto, Giuseppe Tagariello, J. Rosing, Paolo Simioni

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)959-968
JournalJournal of Thrombosis and Haemostasis
Volume9
Issue number5
DOIs
Publication statusPublished - May 2011

Keywords

  • deep-intronic mutation
  • factor V deficiency
  • platelet factor V
  • pseudo-exon
  • thrombin generation
  • thromboelastometry

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