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Article

Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism.

Journal of thrombosis and haemostasis : JTH - 1 Sept 2025

Van Laer Christine, Vanrenterghem Marthe, Jacquemin Marc, Verstraete Andreas, Baert Sarissa, Kint Cyrielle, Kruijt Mirjam, Ruhaak L Renee, Labarque Veerle, Vanassche Thomas, Verhamme Peter, Peerlinck Kathelijne, Freson Kathleen

Abstract excerpt

BACKGROUND: Plasma-based assays or multigene panel testing can be used for the diagnosis of inherited venous thromboembolism (VTE). Our recent multigene panel data showed strictly concordant results between genetic and phenotypic laboratory testing in only half of the patients. OBJECTIVES: We aimed to evaluate in detail the correlation between genotype and laboratory phenotype for defects in natural...

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Identifiers

PMID: 40436275
DOI: 10.1016/j.jtha.2025.05.016

Genes

SERPINC1
PROC
PROS1

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