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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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2024-12-01
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| Serie: | Orphanet Journal of Rare Diseases |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1186/s13023-024-03498-y |
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