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SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case

BACKGROUND: 22q11.2 microdeletion is responsible for the DiGeorge Syndrome, characterized by heart defects, psychiatric disorders, endocrine and immune alterations and a 1 in 4000 live birth prevalence. Real-time quantitative PCR (qPCR) approaches for allelic copy number determination have recently...

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Detalles Bibliográficos
Autores principales:	Frigerio, Marcello, Passeri, Elena, de Filippis, Tiziana, Rusconi, Daniela, Valaperta, Rea, Carminati, Mario, Donnangelo, Anita, Costa, Elena, Persani, Luca, Finelli, Palma, Corbetta, Sabrina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Technical Advance
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3112071/ https://www.ncbi.nlm.nih.gov/pubmed/21545739 http://dx.doi.org/10.1186/1471-2350-12-61

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