Congenital factor V deficiency in a pediatric patient causing mild hemorrhage
This research identified two distinct variants in the <i>F5</i> gene, including a novel variant (c.1177A > G/p.Lys393Glu). These findings elucidate the molecular mechanisms underlying the patient's FV deficiency and expand the mutational spectrum associated with this disorder.
Authors
- Jun Wu (ORCID: https://orcid.org/0000-0001-5178-0906)
- Haiyue Zhang (ORCID: https://orcid.org/0000-0002-3882-0851)
Institutions
- Capital University (US)
- Capital Medical University (CN)
- Peking University (CN)
- Beijing Jishuitan Hospital (CN)
Publication Details
- Journal
- Hematology
- Published
- 2025-07-20
- DOI
- https://doi.org/10.1080/16078454.2025.2529050
- Primary Topic
- Blood Coagulation and Thrombosis Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Beijing Municipal Health Commission
- Beijing Municipal Natural Science Foundation