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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Pubblicato in:PLoS One
Autori principali: Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nürnberg, Peter, Neidhardt, John, Berger, Wolfgang
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2016
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4938416/
https://ncbi.nlm.nih.gov/pubmed/27391102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0158692
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