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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5179108/
https://ncbi.nlm.nih.gov/pubmed/28005958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0168966
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