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Tissue‐type plasminogen activator (tPA) homozygous Tyr471His mutation associates with thromboembolic disease
Tissue‐type plasminogen activator (tPA) encoded by PLAT is a major mediator that promotes fibrinolysis and prevents thrombosis. Pathogenetic mutations in PLAT associated with venous thromboembolism have rarely been reported. Here, we report the first case of a homozygous point mutation c.1411T>C...
Autores principales: | Tao, Yanyi, Ma, Jiewen, Feng, Yuanzheng, Gao, Chenggang, Wu, Tingting, Xia, Yunqing, Cheng, Zhipeng, Zhang, Yi, Liu, Tingting, Hu, Yu, Tang, Liang V. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10556205/ https://www.ncbi.nlm.nih.gov/pubmed/37808270 http://dx.doi.org/10.1002/mco2.392 |
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