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Mutation Ter462GlnextTer17 introduces a tail to C-terminus of protein C and causes venous thrombosis.

Thrombosis research - 1 Aug 2024

Lai Zhe, Li Jiaming, Zhou Shijie, Wu Xi, Yuan Junwei, Li Fang, Wu Wenman, Ding Qiulan, Dai Jing, Wang Xuefeng, Lu Yeling, Cai Xiaohong

Abstract excerpt

Protein C (PC), a vitamin K-dependent serine protease zymogen in plasma, can be activated by thrombin-thrombomodulin(TM) complex, resulting in the formation of activated protein C (APC). APC functions to downregulate thrombin generation by inactivating active coagulation factors V(FVa) and VIII(FVIIIa). Deficiency in PC increases the risk of venous thromboembolism (VTE). We have identified two unrelated VTE...

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PMID: 38824799
DOI: 10.1016/j.thromres.2024.109044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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