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Impacts of Usher Syndrome Type IB Mutations on Human Myosin VIIa Motor Function
Usher syndrome (USH) is a human hereditary disorder characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Myosin VIIa has been identified as the responsible gene for USH type 1B, and a number of missense mutations have been identified in the affected familie...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2008
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2821024/ https://ncbi.nlm.nih.gov/pubmed/18700726 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/bi8007142 |
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