Whole-exome sequencing in evaluation of patients with venous thromboembolism
Lee, Eun-Ju; Dykas, Daniel J.; Leavitt, Andrew D.; Camire, Rodney M.; Ebberink, Eduard; de Frutos, Pablo Garcia; Gnanasambandan, Kavitha; Gu, Sean X.; Huntington, James A.; Lentz, Steven R.; Parish, Christopher
Genetics play a significant role in venous thromboembolism (VTE), yet current clinical laboratory-based testing identifies a known heritable thrombophilia (factor V Leiden, prothrombin gene mutation G20210A, or a deficiency of protein C, protein S, or antithrombin) in only a minority of VTE patients. Wehypothesized that a substantial number of VTE patients could have lesser-known thrombophilia mutations. To test this hypothesis, we performed whole-exome sequencing (WES) in 64 patients with VTE,...[Show more]
|Collections||ANU Research Publications|
|Access Rights:||Open Access|
|01_Lee_Whole-exome_sequencing_in_2017.pdf||2.36 MB||Adobe PDF|
Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.