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

BACKGROUND: 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). METHODS: A cohort of 33 pedigrees affected with a vari...

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Detalles Bibliográficos
Autores principales: de Castro-Miró, Marta, Tonda, Raul, Escudero-Ferruz, Paula, Andrés, Rosa, Mayor-Lorenzo, Andrés, Castro, Joaquín, Ciccioli, Marcela, Hidalgo, Daniel A., Rodríguez-Ezcurra, Juan José, Farrando, Jorge, Pérez-Santonja, Juan J., Cormand, Bru, Marfany, Gemma, Gonzàlez-Duarte, Roser
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/PMC5179108/
https://www.ncbi.nlm.nih.gov/pubmed/28005958
http://dx.doi.org/10.1371/journal.pone.0168966

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5179108/
https://www.ncbi.nlm.nih.gov/pubmed/28005958
http://dx.doi.org/10.1371/journal.pone.0168966

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