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High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies

Retinal dystrophies (RD) are clinically and genetically heterogenous disorders showing mutations in over 270 disease-associated genes. Several millions of people worldwide are affected with different types of RD. Studying the relevance of disease-associated sequence alterations will assist in unders...

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Detalles Bibliográficos
Autores principales: Song, Fei, Owczarek-Lipska, Marta, Ahmels, Tim, Book, Marius, Aisenbrey, Sabine, Menghini, Moreno, Barthelmes, Daniel, Schrader, Stefan, Spital, Georg, Neidhardt, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391535/
https://www.ncbi.nlm.nih.gov/pubmed/34440443
http://dx.doi.org/10.3390/genes12081269