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 deficien...

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Hlavní autoři:	Haiyue Zhang, Xinyang Yue, Tenglong Dai, Jun Wu
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2024-12-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	SERPINC1 VTE Antithrombin deficiency Recombinant AT protein
On-line přístup:	https://doi.org/10.1186/s13023-024-03498-y
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