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Thromb Haemost 2000; 84(04): 729-730
DOI: 10.1055/s-0037-1614098
DOI: 10.1055/s-0037-1614098
Letters to the Editor
Grossly Abnormal Proteolysis of von Willebrand Factor (VWF) in a Patient Heterozygous for a Gene Deletion and Mutation in the Dimerization Area of VWF
Weitere Informationen
Publikationsverlauf
Received
27. März 2000
Accepted after revision
16. Mai 2000
Publikationsdatum:
11. Dezember 2017 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00035024/200004/lookinside/thumbnails/10-1055-s-0037-1614098-1.jpg)
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References
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- 2 Schneppenheim R, Brassard J, Krey S, Budde U, Kunicki TJ, Holmberg L, Ware J, Ruggeri ZM. Defective dimerization of von Willebrand factor subunits due to a Cys → Arg mutation in type IID von Willebrand disease. Proc Natl Acad Sci USA 1996; 93: 3581-6.
- 3 Zhang ZP, Blomback M, Egberg N, Falh G, Anvret M. Characterization of the von Willebrand factor gene (vWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin. Genomics 1994; 21: 188-93.
- 4 Schneppenheim R, Budde U, Drewke E, Hassenpflug W, Krey S, Oldenburg J, Riesen R, Schwaab R. Cysteine mutations of von Willebrand factor correlate with different types of von Willebrand disease. Thromb Haemost. 1999 (suppl); 283. (Abstract).
- 5 Zimmerman TS, Dent JA, Ruggeri ZM, Nannini LH. Subunit composition of plasma von Willebrand factor. Cleavage is present in normal individuals, increased in type IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individuals oligomers (types IIC, IID, and HE). J Clin Invest 1986; 77: 947-51.
- 6 Castaman G, Eikenboom JCJ, Lattuada A, Mannucci PM, Rodeghiero F. Heightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease hemizygous or homozygous for the C2362F mutation. Br J Haematol 2000; 94: 188-90.