Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism
© 2016 Wiley Periodicals, Inc. The prevalence of protein S (PS) deficiency in Asian patients with venous thromboembolism is around 8–30%, higher than that in Caucasian populations. The present study reports the genotypes (including one novel mutation) and phenotypes of children with PS deficiency at...
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| Main Authors: | , , , , , , , |
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| 格式: | 雜誌 |
| 出版: |
2018
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| 主題: | |
| 在線閱讀: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84991439230&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/57712 |
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| 機構: | Chiang Mai University |
| 總結: | © 2016 Wiley Periodicals, Inc. The prevalence of protein S (PS) deficiency in Asian patients with venous thromboembolism is around 8–30%, higher than that in Caucasian populations. The present study reports the genotypes (including one novel mutation) and phenotypes of children with PS deficiency at a tertiary care institute. A total of six patients were included, three with arterial ischemic stroke, two with cerebral venous sinus thrombosis, and one with deep vein thrombosis. PS mutations were identified in four patients: p.R355C, p.G336D, p.E67A, and p.N188KfsX9. p.N188KfsX9 is a novel mutation with less than 20% PS activity noted in heterozygotes. |
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