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A Novel Missense Mutation, E1623G, in the Human Factor VIII Gene Associated With Moderate Haemophilia A

INTRODUCTION: Haemophilia A is the most common inherited X-linked recessive bleeding disorder. The severity of the resultant bleeding diathesis depends on the FVIII levels associated with the mutation. Analysis of carrier state can be made indirectly by DNA linkage analysis or directly by identifyin...

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Detalles Bibliográficos
Autores principales: Onsori, Habib, Hosseinpour Feizi, Mohammad Ali, Hosseinpour Feizi, Abbas Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kowsar 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3964430/
https://www.ncbi.nlm.nih.gov/pubmed/24719712
http://dx.doi.org/10.5812/ircmj.6727