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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2012
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3430670/
https://ncbi.nlm.nih.gov/pubmed/22952768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0043799
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