Molecular defects in haemophilia A and von Willebrand's disease.
A model is proposed for the synthesis of the factor VII/von Willebrand factor protein. The defect(s) in von Willebrand's disease are related to abnormalities of the protein subunit and/or its carbohydrate content, while in haemophilia the abnormality is related to a deficiency or abnormality of the X-dependent enzyme or protein which is involved in the generation of procoagulant activity of the factor VII/von Willebrand factor multimer.
D001779:Blood Coagulation Factors / Q000096:biosynthesis*; D000939:Epitopes; D006467:Hemophilia A / Q000097:blood / Q000235:genetics* / Q000276:immunology; D006801:Humans; D008954:Models, Biological; D008970:Molecular Weight; D012730:Sex Chromosomes; D014842:von Willebrand Diseases / Q000097:blood / Q000235:genetics* / Q000276:immunology; D014841:von Willebrand Factor / Q000096:biosynthesis*
D001779:Blood Coagulation Factors; D000939:Epitopes; D014841:von Willebrand Factor