id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-348499-7ll7sd3o	Manderstedt, Eric	Genetic variation in the C-type lectin receptor CLEC4M in type 1 von Willebrand Disease patients	2018-02-01		.txt	text/plain	5449	262	53	von Willebrand factor (VWF) levels in healthy individuals and in patients with type 1 von Willebrand disease (VWD) are influenced by genetic variation in several genes, e.g. VWF, ABO, STXBP5 and CLEC4M. Additional studies of STXBP5 and STX2 [8] and CLEC4M [9, 10] have confirmed that single nucleotide variants (SNVs) in these genes are associated with the variation observed for plasma levels of VWF. CLEC4M also binds to VWF [9] and variants in this gene contribute to the variation in the VWF level observed both in normal individuals [4] and in type 1 VWD patients [9, 10] . The present study aimed to screen comprehensively for genetic variation in the CLEC4M gene in individuals from 106 unrelated type 1 VWD families by re-sequencing the gene region (excluding exon 4) and genotyping the polymorphic neck region (exon 4) of the gene.	./cache/cord-348499-7ll7sd3o.txt	./txt/cord-348499-7ll7sd3o.txt