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

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...

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Detalles Bibliográficos
Autores principales: Menezes, Juliane, Ventura, Célia, Costa, João Matos, Parreira, Elsa, Romão, Luísa, Gonçalves, João
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715601/
https://www.ncbi.nlm.nih.gov/pubmed/29225857
http://dx.doi.org/10.1002/ccr3.1226

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715601/
https://www.ncbi.nlm.nih.gov/pubmed/29225857
http://dx.doi.org/10.1002/ccr3.1226

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