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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...

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Detalles Bibliográficos
Autores principales: QIAO, SHU-KAI, REN, HAN-YUN, REN, JIN-HAI, GUO, XIAO-NAN
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2014
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