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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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| Autori principali: | , , , , , , , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Public Library of Science (PLoS)
2012-01-01
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| Serie: | PLoS ONE |
| Accesso online: | http://europepmc.org/articles/PMC3430670?pdf=render |
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