PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease

Menezes, JVentura, CCosta, JParreira, ERomão, L2018-04-112018-04-112017Clin Case Rep. 2017 Nov 3;5(12):2062-20652050-0904http://hdl.handle.net/10400.10/1980Our results prove that c.1871-14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA-based studies in order to evaluate variants pathogenicity. We evidence the increased risk of venous thromboembolism associated with this cryptic splice-site variant if present in patients with PS deficiency.engProtein S deficiencyThrombosisVenous thromboembolismPROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic diseasejournal article10.1002/ccr3.1226