Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was designed for the diagnosis of a set of inborn errors of metabol...

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Bibliographic Details
Main Authors: Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong, Working Group
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4887012?pdf=render

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http://europepmc.org/articles/PMC4887012?pdf=render

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