Associated Papers
Protein S Gene Mutation: Potential Mechanism of Cerebral Venous Sinus Thrombosis in Patients With Dural Arteriovenous Fistula.
Song Z et al.
Neurosurgery, 2025
Application of multigene panel testing for bleeding, thrombotic, and platelet disorders in patients and the general population in China.
Cai Y et al.
Molecular Biomedicine, 2025
Molecular and clinical characterization of two independent Chinese families with protein C deficiency.
Wen M et al.
Annals of Hematology, 2025
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.
Xu F et al.
Annals of Hematology, 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
A case of Hereditary diffuse leukoencephalopathy with spherical axons in a patient with mental disorders as the initial symptom.
Ding H et al.
Asian Journal of Surgery, 2023
Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.
Zhang Z et al.
Medicine, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
[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
Genotype-Phenotype Relationships in a Large French Cohort of Subjects with Inherited Protein C Deficiency.
Alhenc-Gelas M et al.
Thrombosis and Haemostasis, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3B
The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.
Inoue H et al.
Pediatric Blood & Cancer, 2017
Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes.
Deng MY et al.
Thrombosis Research, 2016
Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations.
Liu H et al.
Gene, 2015
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.
Kim HJ et al.
Haematologica, 2014
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
Impairment of protein C secretion in protein C-deficient patients carrying an Asp297 mutation.
Yamanouchi J et al.
International Journal of Hematology, 2011
Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients.
Kim HJ et al.
Thrombosis Research, 2008
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