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

• Autor(es): Menezes, J ; Ventura, C ; Costa, J ; Parreira, E ; Romão, L
• Data: 2017
• Identificador Persistente: http://hdl.handle.net/10400.10/1980
• Origem: Repositório do Hospital Prof. Doutor Fernando Fonseca
• Assunto(s): Protein S deficiency; Thrombosis; Venous thromboembolism
• Tipo de Documento: Artigo científico
• Idioma: Inglês
• Contribuidor(es): Unidade Local de Saúde Amadora / Sintra

Descrição

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.