Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

NGS-based genetic diagnosis has completely revolutionized the human genetics field. In this study, we have aimed to identify new genes and mutations by Whole Exome Sequencing (WES) responsible for inherited retinal dystrophies (IRD).A cohort of 33 pedigrees affected with a variety of retinal disorde...

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Bibliographic Details
Main Authors: Marta de Castro-Miró, Raul Tonda, Paula Escudero-Ferruz, Rosa Andrés, Andrés Mayor-Lorenzo, Joaquín Castro, Marcela Ciccioli, Daniel A Hidalgo, Juan José Rodríguez-Ezcurra, Jorge Farrando, Juan J Pérez-Santonja, Bru Cormand, Gemma Marfany, Roser Gonzàlez-Duarte
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5179108?pdf=render

Internet

http://europepmc.org/articles/PMC5179108?pdf=render

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