Dominant Factor XI Deficiency Caused by Mutations in the Factor XI Catalytic Domain Running title: Autosomal dominant factor XI deficiency
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منابع مشابه
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.
The bleeding diathesis associated with hereditary factor XI (fXI) deficiency is prevalent in Ashkenazi Jews, in whom the disorder appears to be an autosomal recessive condition. The homodimeric structure of fXI implies that the product of a single mutant allele could confer disease in a dominant manner through formation of heterodimers with wild-type polypeptide. We studied 2 unrelated patients...
متن کاملA Classification System for Cross-Reactive Material Negative Factor XI Deficiency Running title: CRM negative factor XI deficiency
The bleeding disorder associated with factor XI (fXI) deficiency is typically inherited as an autosomal recessive trait. However, some fXI mutations may be associated with dominant disease transmission. FXI is a homodimer, a feature that could allow certain mutations to exert a dominant negative effect on wild type fXI secretion through heterodimer formation. We describe two novel fXI mutations...
متن کاملA classification system for cross-reactive material-negative factor XI deficiency.
The bleeding disorder associated with factor XI (fXI) deficiency is typically inherited as an autosomal recessive trait. However, some fXI mutations may be associated with dominant disease transmission. FXI is a homodimer, a feature that could allow certain mutations to exert a dominant-negative effect on wild-type fXI secretion through heterodimer formation. We describe 2 novel fXI mutations (...
متن کاملCys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency
Dear Editor, Coagulation factor XI (FXI) is a member of the “contact pathway” and is activated either intrinsically by coagulation factor XII (FXII) or by thrombin, which is produced by an extrinsic pathway and plays an important role in hemostasis [1]. Factor XI deficiency, also known as hemophilia C, is a predominantly autosomal recessive genetic bleeding disorder that was first reported in 1...
متن کاملPrevalence, causes, and characterization of factor XI inhibitors in patients with inherited factor XI deficiency.
Factor XI deficiency, an injury-related bleeding disorder, is rare worldwide but common in Jews in whom 2 mutations, Glu117Stop (type II) and Phe283Leu (type III), prevail. Mean factor XI activities in homozygotes for Glu117Stop and for Phe283Leu are 1 and 10 U/dL, respectively. Inhibitors to factor XI in patients with severe factor XI deficiency have been reported in a small number of instance...
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تاریخ انتشار 2004