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A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals
Jumpei Yamamoto1, Masaya Yamamoto1, Kozue Takano2,3
1Department of Cardiology, Center Hospital, National Center for Global Health and Medicine, Tokyo, 162-8655, Japan.
Abstract:
Venous thromboembolism (VTE) is a multifactorial disease. Because low-frequency variants and rare mutations have been found to predispose carriers toward VTE, there is a need for variant discovery in clinical settings. Therefore, we used a whole-exome approach for a young VTE patient with a positive family history. We identified in the proband and his affected mother a rare, functional missense variant of prothrombin, p.Arg541Trp, which contributes to the clinical picture of VTE.
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