Article
Regulatory regions of SERPINC1 gene: identification of the first mutation associated with antithrombin deficiency.
Thrombosis and haemostasis - 1 Mar 2012
de la Morena-Barrio María Eugenia, Antón Ana Isabel, Martínez-Martínez Irene, Padilla José, Miñano Antonia, Navarro-Fernández José, Águila Sonia, López María Fernanda, Fontcuberta Jordi, Vicente Vicente, Corral Javier
Abstract excerpt
Antithrombin is the main endogenous anticoagulant. Impaired function or deficiency of this molecule significantly increases the risk of thrombosis. We studied the genetic variability of SERPINC1 , the gene encoding antithrombin, to identify mutations affecting regulatory regions with functional effect on its levels. We sequenced 15,375 bp of this gene, including the potential promoter region, in three groups of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.