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The spectrum of factor XI deficiency in Italy
Haemophilia, 2013SummaryFactor XI (FXI) deficiency is a rare inherited bleeding disorder invariably caused by mutations in the FXI gene. The disorder is rather frequent in Ashkenazi Jews, in whom around 98% of the abnormal alleles is represented by Glu117X and Phe283Leu mutations.
G. Castaman +8 more
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Factor XI deficiency and its management
Haemophilia, 2000Factor XI deficiency has a more variable bleeding tendency than haemophilia A or B. Individuals with severe deficiency have only a mild bleeding tendency, which is typically provoked by surgery, but the risk of bleeding is not restricted to individuals with severe deficiency.
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Molecular Analysis in Factor XI Deficiency
2003Factor XI (FXI) is the zymogen precursor of an active serine protease that participates in the contact phase of coagulation. Synthesized in the liver, it circulates in the plasma in a noncovalent complex with high molecular weight kininogen (1) at a normal concentration of 5 μg/mL. (For clinical purposes, the normal range is defined as 50-150 U/dL) (2).
Johnson, KM, McVey, JH
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Bailliere's clinical haematology, 1997
That factor XI has a role in normal blood coagulation is evidenced by the fact that patients with deficiency are prone to excessive bleeding after haemostatic challenge. The role of factor XI in physiological processes has become clearer since the discovery that it is activated by thrombin; this fact has contributed to a revised model of blood ...
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That factor XI has a role in normal blood coagulation is evidenced by the fact that patients with deficiency are prone to excessive bleeding after haemostatic challenge. The role of factor XI in physiological processes has become clearer since the discovery that it is activated by thrombin; this fact has contributed to a revised model of blood ...
openaire +1 more source
Exhaustion-associated cholesterol deficiency dampens the cytotoxic arm of antitumor immunity
Cancer Cell, 2023Haosong Zhang, Chenqi Xu
exaly
PTA deficiency (factor XI deficiency)
Oral Surgery, Oral Medicine, Oral Pathology, 1976James B. Murphy +2 more
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Human dendritic cell deficiency: the missing ID?
Nature Reviews Immunology, 2011Matthew Collin +2 more
exaly