Associated Papers
Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics.
Kruijt M et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
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
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
de la Morena-Barrio ME et al.
Blood, 2022
Inherited Thrombophilia in the Era of Direct Oral Anticoagulants.
Khider L et al.
International Journal of Molecular Sciences, 2022
Antithrombin deficiency in three Japanese families: one novel and two reported point mutations in the antithrombin gene.
Maruyama K et al.
Thrombosis Research, 2013
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