Clinical and functional characterization of p.Lys322stop variant in the SERPINC1 gene causing severe thrombophilia

Clinical and functional characterization of p.Lys322stop variant in the SERPINC1 gene causing severe thrombophilia

Abstract Background Identification of mutations in the SERPINC1 has illuminated the intricate pathways underlying antithrombin (AT) deficiency. Our group identified a variation in the SERPINC1 gene (c.964 A > T, p.Lys322stop) and further investigated the mechanism of this variant causing AT defic...

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Bibliographic Details
Main Authors: Haiyue Zhang, Xinyang Yue, Tenglong Dai, Jun Wu
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
SERPINC1
VTE
Antithrombin deficiency
Recombinant AT protein
Online Access:https://doi.org/10.1186/s13023-024-03498-y
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