Grossly Abnormal Proteolysis of von Willebrand Factor (VWF) in a Patient Heterozygous for a Gene Deletion and Mutation in the Dimerization Area of VWF

Giancarlo Castaman; Jeroen C. J. Eikenboom; Antonella Lattuada; Francesco Rodeghiero

doi:10.1055/s-0037-1614098

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2000; 84(04): 729-730
DOI: 10.1055/s-0037-1614098

Letters to the Editor

Schattauer GmbH

Grossly Abnormal Proteolysis of von Willebrand Factor (VWF) in a Patient Heterozygous for a Gene Deletion and Mutation in the Dimerization Area of VWF

Giancarlo Castaman

³From the Department of Hematology and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy

,

Jeroen C. J. Eikenboom

¹Hemostasis and Thrombosis Research Center, Leiden University Medical Center, The Netherlands

,

Antonella Lattuada

²Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Maggiore Hospital, University of Milano, Italy

,

Francesco Rodeghiero

³From the Department of Hematology and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy

› Author Affiliations

Abstract

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References

References
1 Eikenboom JCJ, Castaman G, Vos HL, Bertina RM, Rodeghiero F. Characterization of the genetic defects in type 1 and 3 von Willebrand disease patients of Italian origin. Thromb Haemost 1998; 79: 709-17.
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.