Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency.
Christelle OrlandoBelén De la Morena-BarrioInge PareynKaren VanhoorelbekeIrene Martínez-MartínezVicente VicenteJavier CorralKristin JochmansMaría Eugenia de la Morena-BarrioPublished in: Thrombosis and haemostasis (2020)
Antithrombin p.Thr147Ala, responsible for antithrombin type II heparin binding site deficiency, is the first founder mutation reported in people of African ancestry. This study further emphasizes the limitations of commercial methods to diagnose this specific subtype.