Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

doi:10.1038/srep19531

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Article

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Scientific reports - 25 Jan 2016

Perez-Carro Raquel, Corton Marta, Sánchez-Navarro Iker, Zurita Olga, Sanchez-Bolivar Noelia, Sánchez-Alcudia Rocío, Lelieveld Stefan H, Aller Elena, Lopez-Martinez Miguel Angel, López-Molina Ma Isabel, Fernandez-San Jose Patricia, Blanco-Kelly Fiona, Riveiro-Alvarez Rosa, Gilissen Christian, Millan Jose M, Avila-Fernandez Almudena, Ayuso Carmen

Abstract excerpt

Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) characterized by photoreceptor degeneration. RP is highly heterogeneous both clinically and genetically, which complicates the identification of causative genes and mutations. Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP. In our study, an...

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PMID: 26806561
DOI: 10.1038/srep19531
PMCID: PMC4726392

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