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- Wu, Ying-Ying, et al. Show all 11 Authors
- Gene 2015 v.563 pp. 35-40
- Western blotting; antigens; blood proteins; complementary DNA; fluorescent antibody technique; genes; genetic disorders; heterozygosity; in vitro studies; inheritance (genetics); missense mutation; mutants; plasmids; protein disulfide-isomerase; risk; staining; thrombosis
- ... Hereditary protein C deficiency (PCD) is an autosomal inherited disorder associated with high risk for venous thromboembolism (VTE). This study aimed to explore the functional consequences of two missense mutations, p.Asp297His and p.Val420Ile, responsible for type I/II PCD and recurrent deep vein thrombosis (DVT) in a Chinese family. The plasma protein C activities (PC:A) of the proband and his s ...
- Wu, Ying-ying, et al. Show all 11 Authors
- Gene 2015 v.561 pp. 101-106
- factor analysis; founder effect; genes; genetic techniques and protocols; hemorrhage; heterozygosity; homozygosity; missense mutation; mutants; nonsense mutation; patients; screening; secretion; thrombin; China
- ... Factor XI (FXI) deficiency is a rare bleeding disorder with a range of manifestations from asymptomatic to trauma related bleeding. To identify mutations in FXI-deficient patients and characterize the phenotype–genotype relationship, we studied six patients and their 18 family members in central China. Five patients were identified by presurgical or routine laboratory screening but had no bleeding ...