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The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein
A missense mutation, R130S, was recently found in the prestin gene, SLC26A5, of patients with moderate to severe hearing loss (DFNB61). In order to define the pathology of hearing loss associated with this missense mutation, a recombinant prestin construct harboring the R130S mutation (R130S-prestin...
Shranjeno v:
| izdano v: | J Mol Med (Berl) |
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| Main Authors: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2016
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4992584/ https://ncbi.nlm.nih.gov/pubmed/27041369 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00109-016-1410-7 |
| Oznake: |
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