[A variant of the von Willebrand-Jürgens-syndrome with abnormalities of the factor VIII/von Willebrand factor protein (author's transl)].
A family is reported with a variant of von Willebrand's disease. The members of this family showed a qualitative defect of the factor VII/von Willebrand factor protein. The qualitative defect was characterized by an abnormal electrophoretical mobility of factor VIII-related antigen and an abnormal elution pattern as demonstrated by gelfiltration on Sepharose 4 B. Factor VIII-subunits in these patients were found to be normal by polyacrylamidgelelektrophoresis.
D001779:Blood Coagulation Factors; D002648:Child; D002845:Chromatography; D004586:Electrophoresis; D005169:Factor VIII; D005260:Female; D006801:Humans; D008297:Male; D014842:von Willebrand Diseases / Q000175:diagnosis* / Q000235:genetics; D014841:von Willebrand Factor
D001779:Blood Coagulation Factors; D014841:von Willebrand Factor; D005169:Factor VIII
Variante des von Willebrand-Jürgens-Syndroms mit Veränderung des Faktor VIII/von Willebrand Faktor Proteins.