Mutation

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MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

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Keywords: Factor V Leiden mutation, Recurrent pregnancy loss, PCR (Polymerase chain reaction).

The association of factor V leiden mutation with recurrent pregnancy loss

Aortic arch thrombosis in a neonate with heterozygous carrier status of Factor V Leiden Mutation.

A case of neonatal arterial thrombosis mimicking interrupted aortic arch

Individuals with Factor V Leiden mutation therefore have decreased deactivation of both FVa and FVIIIa and increased risk of thrombosis.

A 52-year-old man with ecchymotic leg ulcers

Guedon C, Le Cam-Duchez V, Lalaude O, Menard JF, Lerebours E, Borg JY: Prothrombotic inherited abnormalities other than factor V Leiden mutation do not play a role in venous thrombosis in inflammatory bowel disease.

Inflammatory bowel disease and thrombosis / Inflamatuvar Bagirsak Hastaligi ve Tromboz

The presence of the factor V Leiden mutation increases the risk of VTE and pregnancyrelated morbidity to 1/500.

A case of a combined commonly inherited bleeding and clotting disorder

Gurgey A, Balta G, Boyvat A: Factor V leiden mutation and PAI-1 gene 4G/5G genotype in thrombotic patients with Behcet's disease.

Association between factor V leiden gene mutation and systemic involvement in behcet's disease/Behcet hastaliginda sistemik tutulum ve faktor V leiden gen mutasyonu arasindaki iliski

Factor V Leiden mutation is present in the 4-6% of the general population and is the most common inherited cause of the syndrome accounting for the 40-50% of cases (1).

Combined heterozygote factor V Leiden mutation and anticardiolipin antibody positivity in a young patient with spontaneous deep vein thrombosis/Kombine heterozigot faktor V Leiden mutasyonu ve antikardiyolipin antikor pozitifligi olan genc bir hastada derin ven trombozu

Detection of the factor V Leiden mutation by a modified photocross-linking oligonucleotide hybridization assay.

Genotype-specific signal generation based on digestion of 3-way DNA junctions: application to KRAS variation detection

They concluded that their study showed a significant increase in the prevalence of the factor V Leiden mutation, leading them to the conclusion that patients with factor V Leiden mutation have a predisposition for MI.

Factor V Leiden: an overview

A woman between the ages of 28 and 45 with [genetic thrombophilia], such as the factor V Leiden mutation, and who also uses oral contraceptives has an increased risk of thrombosis, but she may ultimately manage to avoid having a thrombotic episode.

Genetics, OCs up venous thromboembolism risk

Eighteen patients consented to a prospective hypercoagulability evaluation that included assays for protein C, protein S, APC resistance, factor V Leiden mutation, anticardiolipin antibodies, antineutrophil cytoplasmic antibodies (ANCA), rheumatoid factor, antithrombin III, anti-smooth muscle antibody, and lupus anticoagulant panel.

Ischemic colitis revisited: a prospective study identifying hypercoagulability as a risk factor

American College of Medical Genetics consensus statement on factor V Leiden mutation testing.

From peapods to laboratory medicine: molecular diagnostics of inheritable diseases. (Clinical Issues)