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Research Article Free access | 10.1172/JCI108160

Studies of the human factor VIII/von Willebrand factor protein. III. Qualitative defects in von Willebrand's disease.

H R Gralnick, B S Coller, and Y Sultan

Find articles by Gralnick, H. in: PubMed | Google Scholar

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Published October 1, 1975 - More info

Published in Volume 56, Issue 4 on October 1, 1975
J Clin Invest. 1975;56(4):814–827. https://doi.org/10.1172/JCI108160.
© 1975 The American Society for Clinical Investigation
Published October 1, 1975 - Version history
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Abstract

The Factor VIII/von Willebrand factor protein was characterized in two unrelated patients with von Willebrand's disease in whom procoagulant and Factor VIII/von Willebrand factor antigen levels were normal. In both patients evidence of an abnormal protein was observed on crossed antigen-antibody electrophoresis. In one patient the Factor VIII/von Willebrand factor protein eluted from Sepharose 4B in a position and distribution identical to normal with normal levels of procoagulant activity and antigen. However, the partially purified Factor VIII/von Willebrand factor protein had markedly reduced von Willebrand factor activity in a ristocetin assay. In the second patient the peak of Factor VIII/von Willebrand factor protein, antigen, and procoagulant activity eluted from a Sepharose 4B column with an estimated molecular weight of approximately half that of normal. This protein had no von Willebrand factor activity. In both patients the reduced Factor VIII/von Willebrand factor protein subunit was indistinguishable from normal on polyacrylamide gel electrophoresis. These studies indicate that in some patients with von Willebrand's disease there is a qualitative defect of the Factor VII/von Willebrand factor protein; the total amount of protein, antigen, and procoagulant activity are normal while the von Willebrand factor activity is deficient.

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