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

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 (β0) or partial (β+) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β039, β+IVSI-110, β+IVSI-6 and β0IVSI-1. Several molecular...

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Bibliographic Details
Main Authors: Giulia Breveglieri, Anna Travan, Elisabetta D'Aversa, Lucia Carmela Cosenza, Patrizia Pellegatti, Giovanni Guerra, Roberto Gambari, Monica Borgatti
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5325530?pdf=render

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http://europepmc.org/articles/PMC5325530?pdf=render

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