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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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Materias: | |
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 |