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Pathophysiology of factor V Leiden gene mutation. Factor V Leiden is an autosomal dominant genetic condition that exhibits incomplete penetrance, i.e. not every person who has the mutation develops the disease. The condition results in a factor V variant that cannot be as easily degraded by activated protein C.
The best known and most common hereditary form is Factor V Leiden, which is responsible for more than 95% of cases. [5] Other genetic causes include Factor V Cambridge (VThr306) and the factor V HR2 haplotype (A4070G mutation). [5] [6] Acquired forms of APC resistance occur in the presence of elevated Factor VIII concentrations.
The activated protein C resistance (APCR) test is a coagulation test used in the evaluation and diagnosis of activated protein C (APC) resistance, a form of hypercoagulability.
Factor V Leiden is an inherited blood clotting disorder. It can cause life-threatening clots in the body and complications during pregnancy. What you need to know about factor V Leiden - a blood ...
14067 Ensembl ENSG00000198734 ENSMUSG00000026579 UniProt P12259 O88783 RefSeq (mRNA) NM_000130 NM_007976 RefSeq (protein) NP_000121 NP_032002 Location (UCSC) Chr 1: 169.51 – 169.59 Mb Chr 1: 163.98 – 164.05 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Coagulation factor V (Factor V), also less commonly known as proaccelerin or labile factor, is a protein involved in ...
Factor V Leiden is responsible for 8% of cases. [2] Other less common inherited disorders leading to the condition include factor II mutation (3%), protein C deficiency (5%), protein S deficiency (4%), and antithrombin III deficiency(1%). [2] [14] Budd–Chiari syndrome may be the presenting sign of these hypercoagulable disorders.
The defect was called factor V Leiden, as genetic abnormalities are typically named after the place where they are discovered. [51] Two years later, the same group described a common mutation in the prothrombin gene that caused elevation of prothrombin levels and a mild increase in thrombosis risk. [4] [5] [52]
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