Associated Papers
Association of the p.Phe155del mutation in SERPINC1 with changed antithrombin function and increased risk of venous thromboembolism: clinical and functional observations.
Lu J et al.
Thrombosis Journal, 2025
SERPINC1 c.1247dupC: a novel SERPINC1 gene mutation associated with familial thrombosis results in a secretion defect and quantitative antithrombin deficiency.
Ruf M et al.
Thrombosis Journal, 2024
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.
Bravo-Pérez C et al.
Jci Insight, 2022
36214221 (PubMed )
Supplement: jciinsight-7-161430-s136.pdf
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