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  • Title: A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency.
    Author: Castaman G, Giacomelli SH, Tagliaferri A, Rodeghiero F.
    Journal: Blood Coagul Fibrinolysis; 2013 Sep; 24(6):670-2. PubMed ID: 23571684.
    Abstract:
    Factor XI (FXI) deficiency is an autosomal inherited coagulation disorder, characterized by an inconsistent bleeding tendency, mainly associated with injury or surgery. Although most of the F11 gene mutations cause a true quantitative deficiency of FXI (cross-reacting material-negative, CRM-), very few variants characterized by a qualitative abnormality resulting in a discrepant FXI activity/FXI antigen ratio (CRM positive, CRM+) have been reported. We describe here a novel CRM+ mutation (His127Arg) identified in an asymptomatic woman from Indonesia and in her two sons.
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