A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described. This heterogeneity both at the clinical and genetic levels complicates the ide...

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Detalles Bibliográficos
Autores principales: Ezquerra-Inchausti, Maitane, Anasagasti, Ander, Barandika, Olatz, Garay-Aramburu, Gonzaga, Galdós, Marta, López de Munain, Adolfo, Irigoyen, Cristina, Ruiz-Ederra, Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194132/
https://www.ncbi.nlm.nih.gov/pubmed/30337596
http://dx.doi.org/10.1038/s41598-018-33810-3

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