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The mutational spectrum of type 1 von Willebrand disease:
results from a Canadian cohort study
by Paula D. James, Colleen Notley, Carol Hegadorn, Jayne Leggo, Angie Tuttle,
Shawn Tinlin, Christine Brown, Chandler Andrews, Andrea Labelle, Yvette Chirinian,
Lee O'Brien, Maha Othman, Georges Rivard, Dilys Rapson, Christine Hough, and
David Lillicrap
Blood
Volume 109(1):145-154
January 1, 2007
©2007 by American Society of Hematology
Consolidated Standards of Reporting Trials (CONSORT) diagram of patient inclusion.
Paula D. James et al. Blood 2007;109:145-154
©2007 by American Society of Hematology
ABO blood group and VWF:Ag level.
Paula D. James et al. Blood 2007;109:145-154
©2007 by American Society of Hematology
Location of 45 of the putative mutations identified in this study (excluding the splice site and
branch site changes).
Paula D. James et al. Blood 2007;109:145-154
©2007 by American Society of Hematology
Genetic model for type 1 VWD. Diagram showing a model for the molecular pathology of type 1
VWD. In more severe type 1 VWD cases, genetic changes are common within the VWF gene and
are highly heritable.
Paula D. James et al. Blood 2007;109:145-154
©2007 by American Society of Hematology
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