Identification of a novel mutation in the factor VIII gene causing severe haemophilia A

BACKGROUND: Deficiency in coagulation factor VIII encoded by F8 results in the X-linked recessive bleeding disorder haemophilia A (HEMA). Here we describe the identification of a novel variant in the factor VIII gene, F8, in an adult male patient with severe haemophilia A. CASE PRESENTATION: The pat...

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Detalles Bibliográficos
Autores principales: Nissen, S. K., Laursen, A. L., Poulsen, L. H., Mogensen, T. H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6069878/
https://www.ncbi.nlm.nih.gov/pubmed/30083353
http://dx.doi.org/10.1186/s12878-018-0113-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6069878/
https://www.ncbi.nlm.nih.gov/pubmed/30083353
http://dx.doi.org/10.1186/s12878-018-0113-4

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