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Publicação
PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease
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Autores
Orientador(es)
Resumo(s)
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.
Descrição
Palavras-chave
Protein S deficiency Thrombosis Venous thromboembolism
Contexto Educativo
Citação
Clin Case Rep. 2017 Nov 3;5(12):2062-2065
Editora
John Wiley and Sons