Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals

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...

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Autores principales: Yamamoto, Jumpei, Yamamoto, Masaya, Takano, Kozue, Okazaki, Toru, Arakawa, Reiko, Hara, Hisao, Okazaki, Atsuko, Takeuchi, Fumihiko, Hiroi, Yukio, Kato, Norihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012570/
https://www.ncbi.nlm.nih.gov/pubmed/33790279
http://dx.doi.org/10.1038/s41439-021-00145-x
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author Yamamoto, Jumpei
Yamamoto, Masaya
Takano, Kozue
Okazaki, Toru
Arakawa, Reiko
Hara, Hisao
Okazaki, Atsuko
Takeuchi, Fumihiko
Hiroi, Yukio
Kato, Norihiro
author_facet Yamamoto, Jumpei
Yamamoto, Masaya
Takano, Kozue
Okazaki, Toru
Arakawa, Reiko
Hara, Hisao
Okazaki, Atsuko
Takeuchi, Fumihiko
Hiroi, Yukio
Kato, Norihiro
author_sort Yamamoto, Jumpei
collection PubMed
description 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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spelling pubmed-80125702021-04-16 Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals Yamamoto, Jumpei Yamamoto, Masaya Takano, Kozue Okazaki, Toru Arakawa, Reiko Hara, Hisao Okazaki, Atsuko Takeuchi, Fumihiko Hiroi, Yukio Kato, Norihiro Hum Genome Var Data Report 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. Nature Publishing Group UK 2021-03-31 /pmc/articles/PMC8012570/ /pubmed/33790279 http://dx.doi.org/10.1038/s41439-021-00145-x Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Yamamoto, Jumpei
Yamamoto, Masaya
Takano, Kozue
Okazaki, Toru
Arakawa, Reiko
Hara, Hisao
Okazaki, Atsuko
Takeuchi, Fumihiko
Hiroi, Yukio
Kato, Norihiro
Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals
title Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals
title_full Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals
title_fullStr Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals
title_full_unstemmed Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals
title_short Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals
title_sort venous thromboembolism is caused by prothrombin p.arg541trp mutation in japanese individuals
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012570/
https://www.ncbi.nlm.nih.gov/pubmed/33790279
http://dx.doi.org/10.1038/s41439-021-00145-x
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