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Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

Inherited retinal dystrophies (IRDs) are Mendelian diseases with tremendous genetic and phenotypic heterogeneity. Identification of the underlying genetic basis of these dystrophies is therefore challenging. In this study we employed whole exome sequencing (WES) in 11 families with IRDs and identifi...

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Detalles Bibliográficos
Autores principales:	Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nürnberg, Peter, Neidhardt, John, Berger, Wolfgang
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/PMC4938416/ https://www.ncbi.nlm.nih.gov/pubmed/27391102 http://dx.doi.org/10.1371/journal.pone.0158692

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