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Title: Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism
Authors: Patcharee Komwilaisak
Werasak Sasanakul
Ampaiwan Chuansumrit
Somjai Kanjanapongkul
Somporn Wangruangsathit
Apasri Lusawat
Pimlak Charoenkwan
Nongnuch Sirachainan
Keywords: Medicine
Issue Date: 1-May-2017
Abstract: © 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.
ISSN: 15455017
Appears in Collections:CMUL: Journal Articles

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