Article
Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.
PloS one - 1 Jan 2016
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
Abstract excerpt
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 sequencing the promoter, intron 1 and 2 of this gene in 23 patients with antithrombin deficiency but without known...
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