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 ...
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......
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 ...
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 ...
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,... ...
caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II.###Dusart Syndrome in a Scandinavian family characterized by arterial and venous thrombosis at young age.###Inhibition of thrombin-mediated factor V activation contributes to the anticoagulant activity of fibrinogen '. 来...
Both parents carry the same mutation heterozygously, as seen in the R (grey boxes) that resembles an A and a G in each allele PAS-positive material subendothelial to small arterioles in both organs. No lipopigments were seen in all investi- gated peripheral organs, including heart, lung, ...
(B) Gender: VExP counts the number of heterozygous/homozygous SNPs in the X and Y chromosome to determine gender. Samples with gender assignment errors were eliminated as potential labeling errors. (C) Pedigree structure: Pedigree errors can affect de novo CNV, homozygosity and linkage analysis. ...
(homozygous deletion of SMN1) in the Swedish population is around 1 in 12 000 live births,15 the frequency of heterozygous SMN1 deletions in Sweden can be estimated to be around 1/55, similar to what has been reported in France.16 The frequency of heterozygous SMN1 deletions found in the ...
Patients with homozygous A were found to have a higher overall response rate than those with heterozygous or homozygous G alleles (97.3% vs. 83.7%,P = 0.068). The complete response rate in patients with homozygous A was statistically higher than that in AG and GG allele carriers (89.2%...