Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing

Inherited Retinal Dystrophies are clinically and genetically heterogeneous disorders affecting the photoreceptors. Although NGS has shown to be helpful for the molecular diagnosis of these conditions, some cases remain unsolved. Among these, several individuals harboured monoallelic variants in a re...

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Detalles Bibliográficos
Autores principales: González-del Pozo, María, Martín-Sánchez, Marta, Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Chimenea, Ángel, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
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/PMC6127285/
https://www.ncbi.nlm.nih.gov/pubmed/30190494
http://dx.doi.org/10.1038/s41598-018-31511-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127285/
https://www.ncbi.nlm.nih.gov/pubmed/30190494
http://dx.doi.org/10.1038/s41598-018-31511-5

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