title: Detection of heterozygotes in both parents of homozygous patients with Von Willebrand's disease.
abstract: 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.
mesh_terms: D000293:Adolescent; D000941:Antigens / Q000032:analysis; D001780:Blood Coagulation Tests; D005169:Factor VIII / Q000276:immunology; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D005779:Immunodiffusion; D007122:Immunoelectrophoresis; D008297:Male; D010375:Pedigree; D010974:Platelet Aggregation; D014842:von Willebrand Diseases / Q000235:genetics* / Q000276:immunology
chemical_list: D000941:Antigens; D005169:Factor VIII