Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency

Antithrombin is a crucial anticoagulant serpin whose even moderate deficiency significantly increases the risk of thrombosis. Most cases with antithrombin deficiency carried genetic defects affecting exons or flanking regions of SERPINC1.We aimed to identify regulatory mutations inSERPINC1 through s...

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Detalles Bibliográficos
Autores principales: Toderici, Mara, de la Morena-Barrio, María Eugenia, Padilla, José, Miñano, Antonia, Antón, Ana Isabel, Iniesta, Juan Antonio, Herranz, María Teresa, Fernández, Nuria, Vicente, Vicente, Corral, Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803246/
https://www.ncbi.nlm.nih.gov/pubmed/27003919
http://dx.doi.org/10.1371/journal.pone.0152159

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803246/
https://www.ncbi.nlm.nih.gov/pubmed/27003919
http://dx.doi.org/10.1371/journal.pone.0152159

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