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Article

Met343Val mutation disrupts the shuttling of Trp380 leading to a low-activity conformer of activated protein C and causes thrombosis.

Journal of thrombosis and haemostasis : JTH - 1 Aug 2024

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

Abstract excerpt

BACKGROUND: Protein C (PC) pathway serves as a major defense mechanism against thrombosis by the activation of PC through the thrombin-thrombomodulin complex and subsequent inactivation of the activated factor (F)V (FVa) and FVIII (FVIIIa) with the assistance of protein S, thereby contributing to hemostatic balance. We identified 2 unrelated patients who suffered from recurrent thrombosis and carried the same...

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Identifiers

PMID: 38788977
DOI: 10.1016/j.jtha.2024.05.012

Genes

APC
PC
PROC

Variants

Provenance

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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