Analysis of four hereditary protein C deficiencies associated with vascular thromboembolism
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00277-024-05674-3.pdf
Reference22 articles.
1. Liu S, Yu F, Luo S et al (2020) Phenotypic and genotypic analysis of a heterozygous deletion mutation in a family with inherited protein C deficiency. Chin J Med Genet 37(10):1108–1112. https://doi.org/10.3760/cmaJ.c. n511374-20190625-00312
2. Griffin JH, Evatt B, Zimmerman TS et al (1981) Deficiency of protein C in congenital thrombotic disease. J Clin Invest 68(5):1370–1373. https://doi.org/10.1172/jci110385
3. Chen C, Yang L, Villoutreix BO et al (2017) Gly74Ser mutation in protein C causes thrombosis due to a defect in protein S-dependent anticoagulant function. Thromb Haemost 117(7):1358–1369. https://doi.org/10.1160/TH17-01-0043
4. Yang L, Zhu L, Yang X et al (2012) Genetic analysis of genetic protein C deficiency caused by complex heterozygous protein C gene mutation. Chin J Med Genet 29(5):515–518. https://doi.org/10.3760/cma. J.i SSN. 1003–9406. 2012.05. 003
5. Xie H, Jin Y, Yang L et al (2021) A family investigation of genetic protein S deficiency caused by homozygous variation. Chin J Tuberculosis Respiratory 44(4):360–364. https://doi.org/10.3760/cma.j.N112147-20200511-00584
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