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Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II
Whirlin mutations cause retinal degeneration and hearing loss in Usher syndrome type II (USH2) and non-syndromic deafness, DFNB31. Its protein recruits other USH2 causative proteins to form a complex at the periciliary membrane complex in photoreceptors and the ankle link of the stereocilia in hair...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3259019/ https://ncbi.nlm.nih.gov/pubmed/22048959 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr503 |
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