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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Autores principales: María González-del Pozo, Cristina Méndez-Vidal, Nereida Bravo-Gil, Alicia Vela-Boza, Joaquin Dopazo, Salud Borrego, Guillermo Antiñolo
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science (PLoS) 2014-01-01
Colección:PLoS ONE
Acceso en línea:http://europepmc.org/articles/PMC4278866?pdf=render
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