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A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9
Mutations of the otoferlin gene have been shown to underlie deafness disorders in humans and mice. Analysis of genetically engineered mice lacking otoferlin have demonstrated an essential role for this protein in vesicle exocytosis at the inner hair cell afferent synapse. Here, we report on the mole...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
2007
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2140949/ https://ncbi.nlm.nih.gov/pubmed/17967520 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.heares.2007.09.005 |
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