Article
A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis.
Thrombosis and haemostasis - 1 Dec 2007
Casonato Alessandra, Sartorello Francesca, Pontara Elena, Gallinaro Lisa, Bertomoro Antonella, Grazia Cattini Maria, Daidone Viviana, Szukowska Maryta, Pagnan Antonio
Abstract excerpt
Mutations in the A1 domain of von Willebrand factor (VWF) may be associated with gain of function in the VWF-platelet GPIb interaction and consumption of large VWF multimers, as seen in type 2B von Willebrand disease (VWD). We report a new VWF abnormality associated with greater VWF-GPIb interaction in the presence of all VWF multimers. The index case is a woman with a lifelong history of bleeding, found...
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