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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Publicado en:PLoS One
Autores principales: Breveglieri, Giulia, Travan, Anna, D’Aversa, Elisabetta, Cosenza, Lucia Carmela, Pellegatti, Patrizia, Guerra, Giovanni, Gambari, Roberto, Borgatti, Monica
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2017
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5325530/
https://ncbi.nlm.nih.gov/pubmed/28235086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0172756
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