Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing

To assess the clinical utility of targeted Next-Generation Sequencing (NGS) for the diagnosis of Inherited Retinal Dystrophies (IRDs), a total of 109 subjects were enrolled in the study, including 88 IRD affected probands and 21 healthy relatives. Clinical diagnoses included Retinitis Pigmentosa (RP...

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Detalles Bibliográficos
Autores principales: Bernardis, Isabella, Chiesi, Laura, Tenedini, Elena, Artuso, Lucia, Percesepe, Antonio, Artusi, Valentina, Simone, Maria Luisa, Manfredini, Rossella, Camparini, Monica, Rinaldi, Chiara, Ciardella, Antonio, Graziano, Claudio, Balducci, Nicole, Tranchina, Antonia, Cavallini, Gian Maria, Pietrangelo, Antonello, Marigo, Valeria, Tagliafico, Enrico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5227126/
https://www.ncbi.nlm.nih.gov/pubmed/28127548
http://dx.doi.org/10.1155/2016/6341870

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