Article
Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.
Blood - 26 Jul 2012
Martínez-Martínez Irene, Navarro-Fernández José, Østergaard Alice, Gutiérrez-Gallego Ricardo, Padilla José, Bohdan Nataliya, Miñano Antonia, Pascual Cristina, Martínez Constantino, de la Morena-Barrio María Eugenia, Aguila Sonia, Pedersen Shona, Kristensen Søren Risom, Vicente Vicente, Corral Javier
Abstract excerpt
The balance between actions of procoagulant and anticoagulant factors protects organisms from bleeding and thrombosis. Thus, antithrombin deficiency increases the risk of thrombosis, and complete quantitative deficiency results in intrauterine lethality. However, patients homozygous for L99F or R47C antithrombin mutations are viable. These mutations do not modify the folding or secretion of the protein, but...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.