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Genetic susceptibility to venous thrombosis.
The annual incidence of venous thrombosis, one of the leading causes of mortality and morbidity, increases from 1 per 100,000 during childhood to 1 per 100 in old age.1 In this article we will disc...
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Discerning the Ancestry of European Americans in Genetic Association Studies
European Americans are often treated as a homogeneous group, but in fact form a structured population due to historical immigration of diverse source populations. Discerning the ancestry of EuropeanExpand
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Inherited thrombophilia: Part 1.
From the 'Channg Cross and Westminster Medical School London UK IRCCS Maggiore Hospital, Milan Italy Beth Israel Hospital, Boston USA, "University Hospital Leiden The Netherlands Research Centre ofExpand
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The Association of Factor V Leiden and Prothrombin Gene Mutation and Placenta-Mediated Pregnancy Complications: A Systematic Review and Meta-analysis of Prospective Cohort Studies
Marc Rodger and colleagues report the results of their systematic review and meta-analysis of prospective cohort studies that estimated the association of maternal factor V Leiden and prothrombinExpand
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A single genetic origin for a common Caucasian risk factor for venous thrombosis.
A common genetic risk factor for venous thrombosis among Caucasoid subpopulations is a polymorphism, nt G1691A, in blood coagulation factor V that replaces Arg506 with Gln and imparts resistance ofExpand
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The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans.
The common 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism causes decreased activity of this enzyme and can be associated with mild-to-moderate hyperhomocysteinemia inExpand
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Mutations in the ER–Golgi Intermediate Compartment Protein ERGIC-53 Cause Combined Deficiency of Coagulation Factors V and VIII
Combined deficiency of factors V and VIII is an autosomal recessive bleeding disorder resulting from alterations in an unknown gene on chromosome 18q, distinct from the factor V and factor VIIIExpand
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Factor XI deficiency in Ashkenazi Jews in Israel.
BACKGROUND AND METHODS Severe factor XI deficiency, which is relatively common among Ashkenazi Jews, is associated with injury-related bleeding of considerable severity. Three point mutations--aExpand
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Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews.
The type II and type III mutations at the FXI locus, which cause coagulation factor XI deficiency, have high frequencies in Jewish populations. The type III mutation is largely restricted toExpand
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Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism: prevalence and risk assessment.
The inherited thrombophilias--deficiencies of protein C, protein S, and antithrombin III--and the prothrombotic polymorphisms factor V G1691A and factor II G20210A predispose patients toward venousExpand
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