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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Bibliographic Details
Main Authors: Mara Toderici, María Eugenia de la Morena-Barrio, José Padilla, Antonia Miñano, Ana Isabel Antón, Juan Antonio Iniesta, María Teresa Herranz, Nuria Fernández, Vicente Vicente, Javier Corral
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4803246?pdf=render