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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Dettagli Bibliografici
Pubblicato in:PLoS One
Autori principali: Pozo, María González-del, Méndez-Vidal, Cristina, Bravo-Gil, Nereida, Vela-Boza, Alicia, Dopazo, Joaquin, Borrego, Salud, Antiñolo, Guillermo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2014
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4278866/
https://ncbi.nlm.nih.gov/pubmed/25544989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0116176
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