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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4803246/
https://ncbi.nlm.nih.gov/pubmed/27003919
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0152159
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