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- Title
Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals.
- Authors
Yamamoto, Jumpei; Yamamoto, Masaya; Takano, Kozue; Okazaki, Toru; Arakawa, Reiko; Hara, Hisao; Okazaki, Atsuko; Takeuchi, Fumihiko; Hiroi, Yukio; Kato, Norihiro
- 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.
- Subjects
THROMBOEMBOLISM; PROTHROMBIN; MISSENSE mutation; THROMBOPHLEBITIS; THROMBOSIS
- Publication
Human Genome Variation, 2021, Vol 8, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-021-00145-x