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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Detalles Bibliográficos
Autores principales: Park, Chang-Hun, Park, Min-Seung, Lee, Ki-O, Kim, Sun-Hee, Park, Young Shil, Kim, Hee-Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004762/
https://www.ncbi.nlm.nih.gov/pubmed/32000417
http://dx.doi.org/10.1097/MD.0000000000018947

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004762/
https://www.ncbi.nlm.nih.gov/pubmed/32000417
http://dx.doi.org/10.1097/MD.0000000000018947

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