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 ...
Among six patients with homozygous deficiency, four presented with membranoproliferative glomerulonephritis, and two with atypical hemolytic uremic syndrome (HUS). The ten other patients had heterozygous FH deficiency and developed atypical HUS. HUS onset occurred from birth to midadulthood, and disease ...
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...
The second variant was characterized by a complete heterozygous deletion of the vWF gene coding region in the propositus and one asymptomatic parent, suggesting that a different type of genetic abnormality was inherited from the other parent and that the patient was doubly heterozygous for distinct ...
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...
The present study found that homozygous deletion of the CFHR1 gene, which encodes the plasma complement protein factor H-related protein 1 (FHR-1), was protective in two cohorts of patients with ACVD, suggesting that FHR-1 accelerates inflammation and exacerbates the disease. To test this ...
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 ...
(2009) Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. Haemophilia, 15, 1143-1153.Delev, D. , Pavlova, A. , Heinz, S. , Seifried, E. & Oldenburg, J. ( 2009 ) Factor 5 mutation profile in German patients with homozygous and heterozygous...
Thus, the patient appeared to be doubly heterozygous for interacting genetic abnormalities affecting vWF expression. In the third group, no gene deletions could be detected. Alloantibodies developed only in the kindred with homozygous deletions. These techniques should prove useful in identifying carriers...