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Article

Hereditary protein C deficiency and thrombosis risk: genotype and phenotype relation in a large Italian family.

European journal of haematology - 1 Apr 2012

Cafolla Arturo, D'Andrea Giovanna, Baldacci Erminia, Margaglione Maurizio, Mazzucconi Maria Gabriella, Foà Robin

Abstract excerpt

UNLABELLED: Protein C (PC) deficiency is an autosomal dominant inherited disorder associated with spontaneous and recurrent thrombotic events. Factor V Leiden (FVL) increases the risk of thrombosis in PC-deficient type I families. We have investigated the relationship between PC deficiency genotype and clinical phenotype in a large four-degree Italian family followed since 1988. METHODS: PC activity and antigen...

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PMID: 22168450
DOI: 10.1111/j.1600-0609.2011.01742.x

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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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