Associated Papers
Distinct pathogenic mechanisms underlying two protein C variants (p.Arg211Gln and p.Val367Met) in a thrombophilic family: integrated functional and structural analyses.
Zhang H et al.
Human Genomics, 2025
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
Evaluation of prothrombotic risk of two PROC hotspot mutations (Arg189Trp and Lys193del) in Chinese population: a retrospective study.
Li L et al.
Thrombosis Journal, 2023
37789321 (PubMed )
Supplement: 12959_2023_548_MOESM1_ESM.docx
Prevalence, Genetic Background, and Clinical Phenotype of Congenital Thrombophilia in Chronic Thromboembolic Pulmonary Hypertension.
Lian TY et al.
Jacc. Asia, 2022
A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with Aneurysms
Weronska A et al.
Genes, 2022
Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.
Wypasek E et al.
Polish Archives of Internal Medicine, 2017
Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.
Tang L et al.
Plos One, 2012
Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.
Rovida E et al.
Human Mutation, 2007
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