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Missense mutation of SERPINC1 (p.Ser426Leu) in a young patient presenting as refractory and recurrent venous thromboembolism: A case report

Genetic and acquired risk factors are extremely important mechanisms in the development of venous thromboembolism (VTE). Inherited antithrombin (AT) deficiency due to mutations in the SERPINC1 gene is a well-known risk factor for genetic thrombophilia. In this case, we reported a 28-year young abroa...

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Detalles Bibliográficos
Autores principales: Yu, Haixu, Gai, Xiaoyan, Wang, Jianli, Zhuang, Jinman, Guo, Wanwan, Qiao, Rui, Zhu, Hong, Sun, Yongchang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9448915/
https://www.ncbi.nlm.nih.gov/pubmed/36093136
http://dx.doi.org/10.3389/fcvm.2022.903785