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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Veröffentlicht in:PLoS One
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2016
Schlagworte:
Research Article
Online Zugang: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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