Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by visual and hearing impairments. Clinically, it is subdivided into three subclasses with nine genes identified so far. In the present study, we investigated whether the currently available Next Generation Seq...

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Bibliographic Details
Main Authors: Licastro, Danilo, Mutarelli, Margherita, Peluso, Ivana, Neveling, Kornelia, Wieskamp, Nienke, Rispoli, Rossella, Vozzi, Diego, Athanasakis, Emmanouil, D'Eustacchio, Angela, Pizzo, Mariateresa, D'Amico, Francesca, Ziviello, Carmela, Simonelli, Francesca, Fabretto, Antonella, Scheffer, Hans, Gasparini, Paolo, Banfi, Sandro, Nigro, Vincenzo
Format: Online
Language:English
Published: Public Library of Science 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3430670/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3430670/

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