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Genotype-Phenotype Relationships in a Large French Cohort of Subjects with Inherited Protein C Deficiency.

Thrombosis and haemostasis - 1 Sept 2020

Alhenc-Gelas Martine, Plu-Bureau Geneviève, Mauge Laetitia, Gandrille Sophie, Présot Isabelle

Abstract excerpt

Inherited protein C (PC) deficiency caused by mutations in the PROC gene is a well-known risk factor for venous thromboembolism. Few studies have investigated the relationship between PROC genotype and plasma or clinical phenotypes. We addressed this issue in a large retrospective cohort of 1,115 heterozygous carriers of 226 PROC pathogenic or likely pathogenic mutations. Mutations were classified in three...

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PMID: 32717757
DOI: 10.1055/s-0040-1714100

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