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

Internet

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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