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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2018
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| Materias: | |
| 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 |