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Can factor-VIII-related antigen assay and ristocetin-induced platelet aggregation assay detect heterozygotes in unaffected parents of patients with severe Von Willebrand's disease?
Can factor-VIII-related antigen assay and ristocetin-induced platelet aggregation assay detect heterozygotes in unaffected parents of patients with severe Von Willebrand's disease?
Factor-VIII-related antigen assay and ristocetin-induced platelet aggregation can detect heterozygote carriers of Von Willebrand's disease in unaffected parents.
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May support carrier detection in severe von Willebrand disease families; hypothesis-generating and requires prospective validation.
Three patients with severe Von Willebrand's disease are shown to be homozygotes. They were born from unaffected parents. New techniques using a factor-VIII-related antigen assay by the Laurell method and a ristocetin-induced platelet aggregation assay demonstrated abnormalities in these two tests in both parents of the probands. Factor-VIII-related of heterogotes could not be differentiated from normal factor-VIII-related antigen by the immunodiffusion technique, crossed immunoelectrophoresis, and filtration on a sepharose 4b column.
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Sultan et al. (1975) studied this question.
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