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Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile
Hemophilia A (HA) in females is rare. Female HA cases are often misdiagnosed as acquired HA (AHA) or as von Willebrand disease type 2N (vWD-2N). Here, we report the case of a 37-year-old female HA patient with a moderate factor VIII (FVIII) deficiency. The patient had no personal or family history o...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3896510/ https://www.ncbi.nlm.nih.gov/pubmed/24317041 http://dx.doi.org/10.3892/mmr.2013.1841 |