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Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genotyping assays

The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin gene, resulting in a total (β(0)) or partial (β(+)) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β(0)39, β(+)IVSI-110, β(+)IVSI-6 and β(0)IVSI-1. Sever...

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Detalles Bibliográficos
Autores principales:	Breveglieri, Giulia, Travan, Anna, D’Aversa, Elisabetta, Cosenza, Lucia Carmela, Pellegatti, Patrizia, Guerra, Giovanni, Gambari, Roberto, Borgatti, Monica
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5325530/ https://www.ncbi.nlm.nih.gov/pubmed/28235086 http://dx.doi.org/10.1371/journal.pone.0172756

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