A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification

The management of unsolved inherited retinal dystrophies (IRD) cases is challenging since no standard pipelines have been established. This study aimed to define a diagnostic algorithm useful for the diagnostic routine and to address unsolved cases. Here, we applied a Next-Generation Sequencing-base...

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Detalles Bibliográficos
Autores principales: Martín-Sánchez, Marta, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Fernández-Suárez, Elena, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763277/
https://www.ncbi.nlm.nih.gov/pubmed/33302505
http://dx.doi.org/10.3390/ijms21249355

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763277/
https://www.ncbi.nlm.nih.gov/pubmed/33302505
http://dx.doi.org/10.3390/ijms21249355

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