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Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding
Mutations in myosin VI have been associated with autosomal-recessive (DFNB37) and autosomal-dominant (DFNA22) deafness in humans. Here, we characterise an myosin VI nonsense mutation (R1166X) that was identified in a family with hereditary hearing loss in Pakistan. This mutation leads to the deletio...
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| Publicado no: | Biochem J |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Portland Press Ltd.
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5074368/ https://ncbi.nlm.nih.gov/pubmed/27474411 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BCJ20160571 |
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