[HTML][HTML] CLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease

YV Sanders, JG Van der Bom, A Isaacs… - Journal of Thrombosis …, 2015 - Elsevier
Background von Willebrand factor (VWF) levels in healthy individuals are influenced by
variations in genetic loci other than the VWF gene, whose contribution to VWF levels in
patients with von Willebrand disease (VWD) is largely unknown. Objectives To investigate
the association between single-nucleotide polymorphisms (SNPs), VWF levels, and
bleeding phenotype. Patients/Methods In 364 type 1 VWD and 240 type 2 VWD patients
from the nationwide cross-sectional 'Willebrand in The Netherlands'(WiN) study, we studied …