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Rapid and reliable detection of α-globin copy number variations by quantitative real-time PCR

BACKGROUND: Alpha-thalassemia is the most common human genetic disease worldwide. Copy number variations in the form of deletions of α-globin genes lead to α-thalassemia while duplications of α-globin genes can cause a severe phenotype in β-thalassemia carriers due to accentuation of globin chain im...

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Detalles Bibliográficos
Autores principales:	Grimholt, Runa M, Urdal, Petter, Klingenberg, Olav, Piehler, Armin P
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Technical Advance
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904007/ https://www.ncbi.nlm.nih.gov/pubmed/24456650 http://dx.doi.org/10.1186/2052-1839-14-4

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