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Seminars in Hematology
Volume 42, Issue 1
, Pages 15-28
, January 2005
Phenotypic and genotypic diagnosis of von Willebrand disease: A 2004 update
References
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A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization
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Delta C in exon 18 of the von Willebrand factor gene is the most common mutation in patients with severe von Willebrand disease type 3 in Poland
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- Aberrant dimerization of von Willebrand factor as the result of mutations in the carboxy-terminal region (Identification of 3 mutations in members of 3 different families with type 2A (phenotype IID) von Willebrand disease) . Blood . 2001;98:674–680
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- Mapping the collagen-binding site in the von Willebrand factor-A3 domain . J Biol Chem . 2003;278:15035–15039
- . Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor . Thromb Haemost . 2002;87:635–640
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Quatre cas de deficit acquis en facteur Willebrand associés a une dysgubulinémie monoclonale
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- . Binding of platelet glycoprotein Ib (α) to von Willebrand factor domain A1 stimulates the cleavage of the adjacent domain A2 by ADAMTS13 . Proc Natl Acad Sci U S A . 2004;101:10578–10583
- Identifications of type 2 von Willebrand disease in previously diagnosed type 1 patients (A reappraisal using phenotypes, genotypes and molecular modelling) . Thromb Haemost . 2000;84:998–1004
PII: S0037-1963(04)00250-1
doi: 10.1053/j.seminhematol.2004.10.002
© 2005 Elsevier Inc. All rights reserved.
« Previous
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Seminars in Hematology
Volume 42, Issue 1
, Pages 15-28
, January 2005
