The genetics of antithrombin

J Corral, ME de la Morena-Barrio, V Vicente - Thrombosis research, 2018 - Elsevier
Antithrombin is a key endogenous anticoagulant whose deficiency constitutes a strong risk
factor for thrombosis. The study of antithrombin deficiency has generated excellent, and in
some cases, surprising results that may be extrapolated to other thrombophilia and genetic
disorders. Routine diagnosis of antithrombin deficiency is based on functional assays. Few
specialized laboratories also perform genetic analysis, even though nowadays it is a simple,
fast and cheap process that generates relevant information with clinical usefulness …