Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing

Fanconi anemia (FA) is a rare inherited disease characterized by developmental defects, short stature, bone marrow failure, and a high risk of malignancies. FA is heterogeneous: 15 genetic subtypes have been distinguished so far. A clinical diagnosis of FA needs to be confirmed by testing cells for...

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Autores principales: Gille, Johan J. P., Floor, Karijn, Kerkhoven, Lianne, Ameziane, Najim, Joenje, Hans, de Winter, Johan P.
Formato: Artigo
Lenguaje:Inglês
Publicado: Hindawi Publishing Corporation 2012
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3388349/
https://ncbi.nlm.nih.gov/pubmed/22778927
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/603253
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