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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]

CollectionsANU Research Publications
Date published: 2017-06-29
Type: Journal article
Source: Blood Advances
DOI: 10.1182/bloodadvances.2017005249
Access Rights: Open Access


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