Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

BACKGROUND: 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 error...

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Detalles Bibliográficos
Autores principales: Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887012/
https://www.ncbi.nlm.nih.gov/pubmed/27243974
http://dx.doi.org/10.1371/journal.pone.0156359

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887012/
https://www.ncbi.nlm.nih.gov/pubmed/27243974
http://dx.doi.org/10.1371/journal.pone.0156359

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