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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...
Autores principales: | Chetta, M., Drmanac, A., Santacroce, R., Grandone, E., Surrey, S., Fortina, P., Margaglione, M. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications
2008
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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 |
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