Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of Retinitis Pigmentosa (RP), comprising one autosomal dominant RP (adRP), two autosomal recessive RP (arRP) and one with two possible modes of inheritance: arRP or X-Linked RP (XLRP). W...

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Detalles Bibliográficos
Autores principales: Pozo, María González-del, Méndez-Vidal, Cristina, Bravo-Gil, Nereida, Vela-Boza, Alicia, Dopazo, Joaquin, Borrego, Salud, Antiñolo, Guillermo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278866/
https://www.ncbi.nlm.nih.gov/pubmed/25544989
http://dx.doi.org/10.1371/journal.pone.0116176

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278866/
https://www.ncbi.nlm.nih.gov/pubmed/25544989
http://dx.doi.org/10.1371/journal.pone.0116176

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