Skip to main content
. Author manuscript; available in PMC: 2014 Apr 1.
Published in final edited form as: Br J Haematol. 2013 Feb 14;161(2):166–176. doi: 10.1111/bjh.12249

Figure 4.

Figure 4

Potential sites of pathogenic variants resulting in quantitative von Willebrand factor (VWF) traits (type 1 and 3 von Willebrand disease). Genetic variables anywhere along the VWF life cycle from the regulation of gene expression to protein clearance may result in quantitative phenotypes. In some instances, single variables may produce a dominant effect but in mild/moderate quantitative phenotypes combinations of variables may be more prevalent.