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PROS1 novel splice-site variant decreases protein S expression in patients from...

Menezes, J; Ventura, C; Costa, J; Parreira, E; Romão, L

Our 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.

Date: 2017   |   Origin: Repositório do Hospital Prof. Doutor Fernando Fonseca
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