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CEP78 is mutated in a distinct type of Usher syndrome
BACKGROUND: Usher syndrome is a genetically heterogeneous disorder featured by combined visual impairment and hearing loss. Despite a dozen of genes involved in Usher syndrome having been identified, the genetic basis remains unknown in 20–30% of patients. In this study, we aimed to identify the nov...
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| Publicado en: | J Med Genet |
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| Autores principales: | , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2016
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6235689/ https://ncbi.nlm.nih.gov/pubmed/27627988 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-104166 |
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