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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2016
Fag:
Research Article
Online adgang: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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