Associated Papers
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.
Bernal S et al.
International Journal of Molecular Sciences, 2021
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020
32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay.
Nuzzo F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
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