Article
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.
Blood - 1 Jan 2007
James Paula D, Notley Colleen, Hegadorn Carol, Leggo Jayne, Tuttle Angie, Tinlin Shawn, Brown Christine, Andrews Chandler, Labelle Andrea, Chirinian Yvette, O'Brien Lee, Othman Maha, Rivard Georges, Rapson Dilys, Hough Christine, Lillicrap David
Abstract excerpt
In order to evaluate the changes within the VWF gene that might contribute to the pathogenesis of type 1 von Willebrand disease (VWD), a large multicenter Canadian study was undertaken. We present data from the sequence analysis of the VWF gene in 123 type 1 VWD index cases and their families. We have identified putative mutations within the VWF gene in 63% (n = 78) of index cases, leaving 37% (n = 45) with no...
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