Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7

We identified a novel splice site mutation of the PROS1 gene in a Polish family with protein S (PS) deficiency and explored the molecular pathogenesis of this previously undescribed variant. A novel mutation was detected in a 26-year-old woman with a history of venous thromboembolism (VTE) provoked...

Descripción completa

Detalles Bibliográficos
Autores principales: Mrożek, Magdalena, Wypasek, Ewa, Alhenc-Gelas, Martine, Potaczek, Daniel P., Undas, Anetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7558706/
https://www.ncbi.nlm.nih.gov/pubmed/32971918
http://dx.doi.org/10.3390/medicina56090485

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7558706/
https://www.ncbi.nlm.nih.gov/pubmed/32971918
http://dx.doi.org/10.3390/medicina56090485

Ejemplares similares