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Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization

BACKGROUND: Standard methods of mutation detection are time consuming in Hemophilia A (HA) rendering their application unavailable in some analysis such as prenatal diagnosis. OBJECTIVES: To evaluate the feasibility of combinatorial sequencing-by-hybridization (cSBH) as an alternative and reliable t...

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Detalles Bibliográficos
Autores principales: Chetta, M., Drmanac, A., Santacroce, R., Grandone, E., Surrey, S., Fortina, P., Margaglione, M.
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2840789/
https://www.ncbi.nlm.nih.gov/pubmed/20300295
http://dx.doi.org/10.4103/0971-6866.44106