The novel SERPINC1 missense mutation c.1148 T > A (p.L383H) causes hereditary antithrombin deficiency and thromboembolism in a Chinese family: a case report

Abstract Background Hereditary antithrombin deficiency, an autosomal-dominant thrombotic disease caused by a SERPINC1 gene deficiency, is extremely rare, although it is the leading cause of hereditary thrombophilias. Herein we report a novel SERPINC1 gene mutation in a Chinese family and one case of...

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Autors principals:	Fangkai He, Yang Wang, Weiwei Ning, Chao Liu, Xiaojun Guan, Yao Yao
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2025-03-01
Col·lecció:	Journal of Medical Case Reports
Matèries:	Hereditary antithrombin deficiency SERPINC1 Pulmonary embolism Novel genetic variant Rivaroxaban
Accés en línia:	https://doi.org/10.1186/s13256-025-05114-4
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