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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th-cmuir.6653943832-405212017-09-28T04:10:02Z Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism Komwilaisak P. Sasanakul W. Chuansumrit A. Kanjanapongkul S. Wangruangsathit S. Lusawat A. Charoenkwan P. Sirachainan N. © 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. 2017-09-28T04:10:02Z 2017-09-28T04:10:02Z 5 Journal 15455009 2-s2.0-84991439230 10.1002/pbc.26301 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84991439230&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/40521 |
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© 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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Journal |
author |
Komwilaisak P. Sasanakul W. Chuansumrit A. Kanjanapongkul S. Wangruangsathit S. Lusawat A. Charoenkwan P. Sirachainan N. |
spellingShingle |
Komwilaisak P. Sasanakul W. Chuansumrit A. Kanjanapongkul S. Wangruangsathit S. Lusawat A. Charoenkwan P. Sirachainan N. Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism |
author_facet |
Komwilaisak P. Sasanakul W. Chuansumrit A. Kanjanapongkul S. Wangruangsathit S. Lusawat A. Charoenkwan P. Sirachainan N. |
author_sort |
Komwilaisak P. |
title |
Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism |
title_short |
Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism |
title_full |
Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism |
title_fullStr |
Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism |
title_full_unstemmed |
Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism |
title_sort |
genotypes and phenotypes of protein s deficiency in thai children with thromboembolism |
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2017 |
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https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84991439230&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/40521 |
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