Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these conditions. We present results from a next-generation sequencing study of a large...

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Detalles Bibliográficos
Autores principales: Carrigan, Matthew, Duignan, Emma, Malone, Conor P. G., Stephenson, Kirk, Saad, Tahira, McDermott, Ciara, Green, Andrew, Keegan, David, Humphries, Peter, Kenna, Paul F., Farrar, G. Jane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021935/
https://www.ncbi.nlm.nih.gov/pubmed/27624628
http://dx.doi.org/10.1038/srep33248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021935/
https://www.ncbi.nlm.nih.gov/pubmed/27624628
http://dx.doi.org/10.1038/srep33248

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