Article
Novel Thrombotic Function of a Human SNP in STXBP5 Revealed by CRISPR/Cas9 Gene Editing in Mice.
Arteriosclerosis, thrombosis, and vascular biology - 1 Feb 2017
Zhu Qiuyu Martin, Ko Kyung Ae, Ture Sara, Mastrangelo Michael A, Chen Ming-Huei, Johnson Andrew D, O'Donnell Christopher J, Morrell Craig N, Miano Joseph M, Lowenstein Charles J
Abstract excerpt
OBJECTIVE: To identify and characterize the effect of a SNP (single-nucleotide polymorphism) in the STXBP5 locus that is associated with altered thrombosis in humans. GWAS (genome-wide association studies) have identified numerous SNPs associated with human thrombotic phenotypes, but determining the functional significance of an individual candidate SNP can be challenging, particularly when in vivo modeling is...
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