Article
A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.
Haematologica - 1 Jan 2013
Casonato Alessandra, Daidone Viviana, Barbon Giovanni, Pontara Elena, Di Pasquale Irene, Gallinaro Lisa, Marullo Letizia, Bertorelle Giorgio
Abstract excerpt
The impaired capacity of von Willebrand factor to carry factor VIII is identified as type 2N von Willebrand's disease. R854Q is the most common type 2N mutation, and almost the only one identified in Italy. This aim of this study was to ascertain whether R854Q mutations in a cohort of Italian patients with type 2N von Willebrand's disease originated from a single event or recurrent events. Thirteen unrelated...
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