Copy Number Variation Is An Important Contributor to the Genetic Causality of Inherited Retinal Degenerations

PURPOSE: Despite substantial progress in sequencing, current strategies can genetically solve only about 55–60% of inherited retinal degeneration (IRD) cases. This can partially be attributed to elusive mutations in the known IRD genes, which are not easily identified by the targeted next-generation...

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Detalles Bibliográficos
Autores principales: Bujakowska, Kinga M., Fernandez-Godino, Rosario, Place, Emily, Cosugar, Mark, Navarro-Gomez, Daniel, White, Joseph, Bedoukian, Emma C., Zhu, Xiaosong, Xie, Hongbo M., Gai, Xiaowu, Leroy, Bart P., Pierce, Eric A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377944/
https://www.ncbi.nlm.nih.gov/pubmed/27735924
http://dx.doi.org/10.1038/gim.2016.158

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377944/
https://www.ncbi.nlm.nih.gov/pubmed/27735924
http://dx.doi.org/10.1038/gim.2016.158

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