Associated Papers
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
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
[Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families].
Xu QY et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2022
Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency.
Martos L et al.
Thrombosis and Haemostasis, 2019
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
Normal ranges and genetic variants of antithrombin, protein C and protein S in the general Chinese population. Results of the Chinese Hemostasis Investigation on Natural Anticoagulants Study I Group.
Zhu T et al.
Haematologica, 2011
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 › TypeII-
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