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...

Descripción completa

Detalles Bibliográficos

Publicado en:	BioMed Research International Vol. 2016; pp. 1 - 15
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:	research tables/charts Journal Article
Publicado:	Wiley-Blackwell 12/29/2016
Acceso en línea:	Ver este registro en EBSCOhost