We found 36 patients homozygous for FVL. Patients homozygous for FVL were younger than controls at group level (56±18 vs. 63±17 展开 关键词: Homozygous factor V Leiden APC-resistance Thrombosis Venous thromboembolism Thrombophilia Heterozygous prothrombin mutation ...
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 ...
Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease. Ngo,K.,Y.,... - 《Proceedings of the National Academy of Sciences》 被引量: 177发表: 1988年 Characterization of the von Willebrand Factor Gene (VWF) in von ...
Clinical Va- lidity: The presence of a heterozygous FVL variant seems to be a weak risk factor for recurrence of VTE (odds ratio [OR]: 1.56). Rare homozygous FVL mutations present somewhat greater risks of VTE recurrence (OR: 2.65). The evidence for this increased risk is convincing, but...
Novel homozygous fibrinogen A± chain truncation causes severe afibrinogenemia with life threatening complications in a two-year-old boy.###Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II.###Dusart...
All "positive" results, i.e., heterozygous or homozygous for the factor V Leiden mutation and/or the prothrombin 20210GϾA mutation, should state that it is important for individuals possessing either one or both of these mutations to understand the clinical risks and the genetic implications ...
21 Another study of 72 young patients with stroke and without traditional vascular risk factors found an increased prevalence in patients compared with control subjects (9.7% of patients had heterozygous mutations vs 2.5% of control subjects; 2.8% of patients had homozygous mutations vs 0% of ...
homozygous protein C deficiency often will not survive beyond theneonatal periodunless they receive protein C replacement.268Numerous studies have demonstrated thatgeneticvariants inPROCare independent risk factors for venous thrombosis.269–271Individuals heterozygous for a variety ofPROCalleles display a ...
(A) Detection of FHR-1 in the EV fraction from NHS (EVNHS) but not from homozygous FHR-1-deficient (EVΔFHR-1) human serum by western blot analysis. FHR-1 was also absent from the supernatant fractions of both sera. Results shown are representative of three experiments. An uncropped ...
While heterozygous mutants (Hoxa5+/−) were viable and indistinguishable from their wild-type littermates, the viability of homozygous mutants was markedly reduced with 50% of the mutant animals dying at birth or shortly thereafter from respiratory distress due to improper tracheal and lung ...