[The Clinical Phenotype and Molecular Pathogenic Mechanism of a Family with Hereditary Coagulation Factor V Deficiency].
The <i>F5</i> exon 3 c.286G>C (p.Asp96His) missense variant may have contributed to the reduction of FⅤ∶C in the preexisting individual and family members, as well as being the genetic etiology of coagulation factor V deficiency.
Authors
- Gang Wang (ORCID: https://orcid.org/0000-0002-2717-4575)
- Linhua Yang (ORCID: https://orcid.org/0000-0003-2000-4087)
- Meifang Wang
- Chunxia Dong
- Liping Guo (ORCID: https://orcid.org/0000-0002-4835-3847)
Institutions
- Shanxi Medical University (CN)
- Second Hospital of Shanxi Medical University (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-12-01
- DOI
- https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.06.028
- Primary Topic
- Blood Coagulation and Thrombosis Mechanisms
- Type
- article