Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods.
Belén De la Morena-BarrioNina BorràsAgustín Rodríguez-AlénMaría Eugenia de la Morena-BarrioJuan L García-HernándezJosé PadillaCarlos Bravo-PérezAntonia MiñanoNoelia RollónJavier CorralFrancisco VidalVicente VicentePublished in: British journal of haematology (2019)