Inherited thrombophilia is now demonstrated to be a multigenic disease; the most common genetic risk factors are the factor V Leiden and the prothrombin mutations. Prior to the discovery of these mutations, three less common genetic risk factors had been......
Introduction: While Factor V Leiden (F5 rs6025 A allele) is a known venous thromboembolism (VTE) risk factor, VTE risk among heterozygous vs. homozygous carriers is uncertain.Botero, J. PerezOrmsby, W. D.Ashrani, A. A.McBane, R. D., IIWysokinski, W. E.Patnaik, M. M.Lewis, B. ...
Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation IGF-I is a key factor in intrauterine development and postnatal growth and metabolism. The secretion of IGF-I in utero is not dependent on GH, whereas in c... MJE Walenkamp,M Karperien,AM Pereira,... ...
Presents a letter to the editor regarding a Budd-Chiari syndrome with underlying homozygous factor V Leiden and heterozygous methylenetetrahydrofolate reductase mutations.doi:10.1007/s00535-005-1664-2Kassem A. BaradaCecilio R. AzarZaher K. Otrock...
Incon- sistencies in the segregation of haplotypes for related individuals in this family were observed in the putative homozygous region, suggesting that there may be a heterozygous deletion spanning the entire ZEB1 locus (Figure 1a). SNP genotyping array analysis of two affected individuals (III:...
We hereby present a case of a middle aged man with sarcoidosis who developed a right main pulmonary embolism and was found to be double heterozygous for methylenetetrahydrofolate reductase gene polymorphisms and factor V Leiden and homozygous for the D-allele of the angiotensin converting enzyme ...
P.87 Obstetric risks for homozygous and heterozygous carriers of the factor V Leiden mutation – does anticoagulation make a difference?PMCID: PMC1582590doi:10.1016/S0049-3848(11)70142-6M. J. SimchenI. GatE. SchiffE. SivanM. Dulitzki...
Dulicek P, Maly J, Safarova M (2000) Risk of thrombosis in patients homozygous and heterozygous for factor V Leiden in the East bohemian region. Clin Appl Thromb Hemost 6: 87-89.Dulicek P., Maly J., Safarova M. (2000): Risk of thrombosis in patients homozygous and heterozygous for ...
Symptomatic combined homozygous factor XII deficiency and heterozygous factor V Leiden. J Thromb Thrombolysis 2000; 9: 271-5.Girolami A,Simioni P,Scaranol. Symptomatic combined,homozygous factor Ⅻ deficiency and heterozygous factor V Leiden[J].Thrombosis and Haemostasis,2000.271-275....
Genetic study revealed factor V Leiden mutation and homozygous mutation G20210A in prothrombin gene. CONCLUSIONS: Both mutations found in this case, alone, are not a high risk factors for venous thrombosis but together may increase 5-10 fold risk of venous thrombosis. Venous stroke must be ...