Publicação
PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease
| Resumo: | 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. |
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| Autores principais: | Menezes, J |
| Outros Autores: | Ventura, C; Costa, J; Parreira, E; Romão, L |
| Assunto: | Protein S deficiency Thrombosis Venous thromboembolism |
| Ano: | 2017 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Hospital Prof. Dr. Fernando Fonseca E.P.E. |
| Idioma: | inglês |
| Origem: | Repositório do Hospital Prof. Doutor Fernando Fonseca |
| Resumo: | 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. |
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