Associated Papers
The clinical and genetic landscape of early-onset thrombophilia in Japan.
Egami N et al.
Pediatric Blood & Cancer, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5
Molecular basis of inherited protein C deficiency results from genetic variations in the signal peptide and propeptide regions.
Cao Q et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Computational analysis of the functional and structural impact of the most deleterious missense mutations in the human Protein C.
Farajzadeh-Dehkordi M et al.
Plos One, 2023
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Preisler B et al.
Journal of Clinical Medicine, 2021
Targeted gene sequencing identifies variants in the protein C and endothelial protein C receptor genes in patients with unprovoked venous thromboembolism.
Wu C et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
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