Factor V Q 506 mutation in children with thrombosis
نویسندگان
چکیده
منابع مشابه
Factor V Leiden, MTHFR C677T and Prothrombin Gene Mutation G20210A in Iranian Patients with Venous Thrombosis
Background: Factor V Leiden, Prothrombin gene (G20210A) and MTHFR (C677T) polymorphism are the main biomarkers for evaluation of tendency for venous thromboembolism. We aimed to investigate the frequency of mutations in factor V Leiden, Prothrombin G20210A and MTHFR C677T and identify the genetic status for these mutations in patients with venous thrombosis. Methods: This study was carried out...
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Recurrent pregnancy loss is usually defined as the loss of two or more consecutive pregnancies before 20 weeks of gestation, which occurs in approximately 5% of reproductive-aged women. It has been suggested that women with thrombophilia have an increased risk of pregnancy loss and other adverse pregnancy outcomes. Thrombophilia is an important predisposition to blood clot formation and is cons...
متن کاملSpontaneous thrombosis in mice carrying the factor V Leiden mutation.
A polymorphism in coagulation factor V, factor V Leiden (FVL), is the major known genetic risk factor for thrombosis in humans. Approximately 10% of mutation carriers experience clinically significant thrombosis in their lifetime. In a small subset of patients, thrombosis is associated with coinheritance of other prothrombotic gene mutations. However, the potential contribution of additional ge...
متن کاملA novel factor V null mutation at Arg 506 causes a false positive Factor V Leiden result.
restriction endonuclease (3). The HFE Cys282Tyr and His63Asp mutations were detected by PCR-RFLP using the restriction endonucleases RsaI and BclI, respectively (4). Among the 100 patients with FV Leiden allele, 5 were heterozygous for the C282Y mutation, 26 were heterozygous for the H63D mutation, 2 were homozygous for the H63D mutation, and 1 was a double heterozygote for both mutations (Tabl...
متن کاملHEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Spontaneous thrombosis in mice carrying the factor V Leiden mutation
A polymorphism in coagulation factor V, factor V Leiden (FVL), is the major known genetic risk factor for thrombosis in humans. Approximately 10% of mutation carriers experience clinically significant thrombosis in their lifetime. In a small subset of patients, thrombosis is associated with coinheritance of other prothrombotic gene mutations. However, the potential contribution of additional ge...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 1996
ISSN: 0361-8609,1096-8652
DOI: 10.1002/(sici)1096-8652(199609)53:1<37::aid-ajh8>3.3.co;2-6