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SERPINC1 c.1247dupC: a novel SERPINC1 gene mutation associated with familial thrombosis results in a secretion defect and quantitative antithrombin deficiency

Abstract Background Antithrombin (AT) is an important anticoagulant in hemostasis. We describe here the characterization of a novel AT mutation associated with clinically relevant thrombosis. A pair of sisters with confirmed type I AT protein deficiency was genetically analyzed on suspicion of an in...

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Main Authors: Maximilian Ruf, Sarah Cunningham, Alexandra Wandersee, Regine Brox, Susanne Achenbach, Julian Strobel, Holger Hackstein, Sabine Schneider
Format: Artigo
Language:Inglês
Published: BMC 2024-02-01
Series:Thrombosis Journal
Subjects:
Hereditary antithrombin deficiency
Frameshift mutation
Secretion defect
Thrombosis
Online Access:https://doi.org/10.1186/s12959-024-00589-5
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