Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia

Paolo Simioni*, Stefano Cagnin, Francesca Sartorello, Gabriele Sales, Luca Pagani, Cristiana Bulato, Sabrina Gavasso, Francesca Nuzzo, Francesco Chemello, Claudia M. Radu, Daniela Tormene, Luca Spiezia, Tilman M. Hackeng, Elena Campello, Elisabetta Castoldi

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)2383-2393
Number of pages11
JournalBlood
Volume137
Issue number17
DOIs
Publication statusPublished - 29 Apr 2021

Keywords

  • VON-WILLEBRAND-FACTOR
  • GENOME-WIDE ASSOCIATION
  • INTRON 1 INVERSION
  • PROTHROMBIN MUTATION
  • PROTEIN-C
  • FACTOR-IX
  • STRUCTURAL VARIATION
  • COPY NUMBER
  • RISK
  • DEFICIENCY

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