ArticleInternational journal of molecular sciences2021
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.
Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Effect of a truncated mutant factor V on hemostatic function and embryonic development in mice.Scientific reports · 2026Article
- Development of a novel and viable knock-in factor V deficiency murine model: Utility for an ultra-rare disease.PloS one · 2025Article
- Gene Dosage ofGenes · 2024Article
- Article
- Congenital coagulation factor V deficiency with intracranial hemorrhage.Journal of clinical laboratory analysis · 2022Review
- Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies.International journal of molecular sciences · 2022Article
- Development and Characterization of a Factor V-Deficient CRISPR Cell Model for the Correction of Mutations.International journal of molecular sciences · 2022Article
- Laboratory and Clinical Analysis of Rare Coagulation Factor Deficiencies-A Respective Study of a Single Center from Northwest China.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisArticle
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
Factor V is an essential clotting factor that plays a key role in the blood coagulation cascade on account of its procoagulant and anticoagulant activity. Eighty percent of circulating factor V is produced in the liver and the remaining 20% originates in the α-granules of platelets. In humans, the factor V gene is about 80 kb in size; it is located on chromosome 1q24.2, and its cDNA is 6914 bp in length. Furthermore, nearly 190 mutations have been reported in the gene. Factor V deficiency is an autosomal recessive coagulation disorder associated with mutations in the factor V gene. This hereditary coagulation disorder is clinically characterized by a heterogeneous spectrum of hemorrhagic manifestations ranging from mucosal or soft-tissue bleeds to potentially fatal hemorrhages. Current treatment of this condition consists in the administration of fresh frozen plasma and platelet concentrates. This article describes the cases of two patients with severe factor V deficiency, and of their parents. A high level of mutational heterogeneity of factor V gene was identified, nonsense mutations, frameshift mutations, missense changes, synonymous sequence variants and intronic changes. These findings prompted the identification of a new mutation in the human factor V gene, designated as
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Registered trials
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