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

ABSTRACT: 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.

SUBMITTER: Menezes J 

PROVIDER: S-EPMC5715601 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature