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Article

Pseudohomozygosity for activated protein C resistance is a risk factor for venous thrombosis.

British journal of haematology - 1 Jul 1999

Castaman G, Tosetto A, Ruggeri M, Rodeghiero F

Abstract excerpt

Pseudohomozygosity for activated protein C resistance (APC-r) is a rare condition due to the association of heterozygous FV Leiden mutation and partial type I FV deficiency. To assess the risk of venous thromboembolism in these subjects, seven families including 11 pseudohomozygotes and 45 relatives were examined. Among the relatives, 16 were heterozygous FV Leiden carriers, nine showed partial FV deficiency and...

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Source

Identifiers

PMID: 10444192
DOI: 10.1046/j.1365-2141.1999.01502.x

Genes

APC

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Pseudohomozygosity for activated protein C resistance is a risk factor for venous thrombosis.PMID 10444192Read ↗

An underestimated combination of opposites resulting in enhanced thrombotic tendency.Semantic proximity Read ↗

Expression of the normal factor V allele modulates the APC resistance phenotype in heterozygous carriers of the factor V Leiden mutation.Semantic proximity Read ↗

Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is "pseudo homozygous" for activated protein C resistance.Semantic proximity Read ↗

"Pseudo homozygous" activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: report of two cases belonging to two unrelated kindreds.Semantic proximity Read ↗

Factor V antigen levels in APC resistance, in factor V deficiency and in combined APC resistance and factor V deficiency (pseudohomozygosis for APC resistance).Semantic proximity Read ↗

Molecular bases of pseudo-homozygous APC resistance: the compound heterozygosity for FV R506Q and a FV null mutation results in the exclusive presence of FV Leiden molecules in plasma.Semantic proximity Read ↗

Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient familiesSemantic proximity Read ↗

Intraindividual consistency of the activated protein C resistance phenotype.Semantic proximity Read ↗

Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V.Semantic proximity Read ↗

Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.Semantic proximity Read ↗

Patients with persistent APC-resistance without factor V Leiden mutation.Semantic proximity Read ↗

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