Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency

BACKGROUND: Antithrombin (AT) is the main physiological anticoagulant involved in hemostasis. Hereditary AT deficiency is a rare autosomal dominant thrombotic disease mainly caused by mutations in SERPINC1, which was usually manifested as venous thrombosis and pulmonary embolism. In this study, we a...

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Detalles Bibliográficos
Autores principales: Wang, Han-lu, Ruan, Dan-dan, Wu, Min, Ji, Yuan-yuan, Hu, Xing-xing, Wu, Qiu-yan, Zhang, Yan-ping, Lin, Bin, Hu, Ya-nan, Wang, Hang, Tang, Yi, Fang, Zhu-ting, Luo, Jie-wei, Liao, Li-sheng, Gao, Mei-zhu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830717/
https://www.ncbi.nlm.nih.gov/pubmed/36624481
http://dx.doi.org/10.1186/s12959-022-00443-6

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