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Article

Loss of protein C vs protein S results in discrepant thrombotic phenotypes.

Blood advances - 11 Feb 2025

Ku Chia-Jui, Yu Xinge, Zhao Queena Y, Grzegorski Steven J, Daniel Jeffrey G, Ferguson Allison C, Shavit Jordan A

Abstract excerpt

ABSTRACT: Venous thrombosis is a leading cause of morbidity/mortality and associated with deficiencies of the anticoagulant protein C (PC; PROC) and its cofactor, protein S (PS; PROS1). Heterozygous mutations increase the risk of adult-onset thrombosis, whereas homozygous mutations result in pre/neonatal lethal thrombosis. Phenotypes of patients with PC and PS deficiency are generally considered clinically...

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Identifiers

PMID: 39657127
DOI: 10.1182/bloodadvances.2024013237
PMCID: PMC11821410

Genes

PC
PROC
PROS1

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