Genetic analysis of severe factor XI deficiency in four Chinese patients

来源 :The 35th World Congress of the International Society of Hema | 被引量 : 0次 | 上传用户:rdx200901as
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Aim Hereditary factor XI deficiency (FXID) is an autosomal inherited coagulation disorder characterized by mild bleeding disorder mainly associated with injury or surgery,which is related to a variety of mutations throughout the factor XI gene.This disorder is particularly common among Ashkenazi Jews with the main mutations of Glu117stop or Phe283Leu,and hereditary factor XI deficiency is also happened in other population,but is rare and with a wide genetic heterogeneity in the spectrum of disease-causative mutations.
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