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Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs(∗)2) in the F5 gene: A case report
INTRODUCTION: Congenital factor V deficiency (FVD) is a rare bleeding disorder characterized by low or undetectable plasma factor V (FV) levels leading to mild to severe bleeding symptoms. Currently, more than 100 mutations have been reported in F5. We herein report a patient with FVD from mutations...
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| Pubblicato in: | Medicine (Baltimore) |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wolters Kluwer Health
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7004762/ https://ncbi.nlm.nih.gov/pubmed/32000417 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000018947 |
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