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Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk

Hereditary Protein S (PS) deficiency is a rare coagulation disorder associated with an increased risk of venous thrombosis (VT). The PS Heerlen (PSH) mutation is a rare S501P mutation that was initially considered to be a neutral polymorphism. However, it has been later shown that PSH has a reduced...

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Detalles Bibliográficos
Autores principales: Suchon, P., Germain, M., Delluc, A., Smadja, D., Jouven, X., Gyorgy, B., Saut, N., Ibrahim, M., Deleuze, J. F., Alessi, M. C., Morange, P. E., Trégouët, D. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5379621/
https://www.ncbi.nlm.nih.gov/pubmed/28374852
http://dx.doi.org/10.1038/srep45507