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Article

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

Orphanet journal of rare diseases - 20 Dec 2024

Zhang Haiyue, Yue Xinyang, Dai Tenglong, Wu Jun

Abstract excerpt

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 deficiency. METHODS: Multiple in silico tools were utilized to predict the conservation of mutations and their impact on the AT...

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Identifiers

PMID: 39707449
DOI: 10.1186/s13023-024-03498-y
PMCID: PMC11662841

Genes

SERPINC1

Variants

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