Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel

Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis of Inherited Retinal Dystrophies (IRD) such as the high clinical and genetic heterogeneity and the overlapping phenotypes. The purpose of this study was the identification of the genetic defect in 32 Spani...

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Detaylı Bibliyografya
Yayımlandı:Sci Rep
Asıl Yazarlar: Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Romero-Pérez, Laura, González-del Pozo, María, Rodríguez-de la Rúa, Enrique, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2016
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4817143/
https://ncbi.nlm.nih.gov/pubmed/27032803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep23910
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