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Article

Arterial and venous thrombosis in two Italian families with the factor V Arg506-->Gln mutation.

European journal of haematology - 1 Jul 1996

Montaruli B, Voorberg J, Tamponi G, Borchiellini A, Muleo G, Pannocchia A, van Mourik J A, Schinco P

Abstract excerpt

APC resistance, due to a point mutation in factor V at amino acid position Arg506, has been identified as a major cause of inherited thrombophilia. Here we report the presence of the factor V Arg506-->Gln mutation in 2 Italian families. In 1 family 3 subjects heterozygous and 2 subjects homozygous for the factor V Arg506-->Gln mutation were identified. The only subject who developed a thrombotic event was a...

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Identifiers

PMID: 8698138
DOI: 10.1111/j.1600-0609.1996.tb00496.x

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APC

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Arterial and venous thrombosis in two Italian families with the factor V Arg506-->Gln mutation.PMID 8698138Read ↗

New molecular insights into the genetics of thrombophilia. Resistance to activated protein C caused by Arg506 to Gln mutation in factor V as a pathogenic risk factor for venous thrombosis.Semantic proximity Read ↗

Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C.Semantic proximity Read ↗

Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French Network on the behalf of INSERM.Semantic proximity Read ↗

Co-segregation of thrombosis with the factor V Q506 mutation in an extended family with resistance to activated protein C.Semantic proximity Read ↗

Arginine506 to glutamin mutation in the factor V gene in infancy and childhood: evidence of fibrinolytic impairment.Semantic proximity Read ↗

Resistance to activated protein C caused by the factor VR506Q mutation is a common risk factor for venous thrombosis.Semantic proximity Read ↗

Inherited resistance to activated protein C caused by presence of the FV:Q506 allele as a basis of venous thrombosis.Semantic proximity Read ↗

Factor V Leiden (R506Q) and risk of venous thromboembolism: a case-control study based on the Spanish population.Semantic proximity Read ↗

Resistance to activated protein C caused by the R506Q mutation in the gene for factor V is a common risk factor for venous thrombosis.Semantic proximity Read ↗

Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease.Semantic proximity Read ↗

Arg506-Gln mutation in factor V and risk of thrombosis during pregnancy.Semantic proximity Read ↗

Elevated Levels of Prothrombin Activation Fragment 1+2 in Plasma from Patients with Heterozygous Arg506 to Gin Mutation in the Factor V Gene (APC-Resistance) and/or Inherited Protein S DeficiencySemantic proximity Read ↗

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