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Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease

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Type 3 von Willebrand disease (VWD), a severe autosomal recessive hereditary bleeding disorder, is described by the virtual absence of von Willebrand factor (VWF). In consanguineous populations, for example Pakistan,… Click to show full abstract

Type 3 von Willebrand disease (VWD), a severe autosomal recessive hereditary bleeding disorder, is described by the virtual absence of von Willebrand factor (VWF). In consanguineous populations, for example Pakistan, the disease is reported with a higher incidence rate than the worldwide prevalence.

Keywords: von; type von; von willebrand; willebrand disease

Journal Title: Haemophilia
Year Published: 2019

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