Article
Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease.
Blood - 30 Jul 2020
Desch Karl C, Ozel Ayse B, Halvorsen Matt, Jacobi Paula M, Golden Krista, Underwood Mary, Germain Marine, Tregouet David-Alexandre, Reitsma Pieter H, Kearon Clive, Mokry Lauren, Richards J Brent, Williams Frances, Li Jun Z, Goldstein David, Ginsburg David
Abstract excerpt
Deep vein thrombosis and pulmonary embolism, collectively defined as venous thromboembolism (VTE), are the third leading cause of cardiovascular death in the United States. Common genetic variants conferring increased varying degrees of VTE risk have been identified by genome-wide association studies (GWAS). Rare mutations in the anticoagulant genes PROC, PROS1 and SERPINC1 result in perinatal lethal thrombosis...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.