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The Cys(214)→Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice
P/rds (peripherin/retinal degeneration slow) is a photoreceptor-specific membrane glycoprotein necessary for outer segment disc morphogenesis. Mutations in P/rds are associated with different blinding diseases. A C214S (Cys(214)→Ser) missense mutation has been shown to be the cause for a late-onset...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Portland Press Ltd.
2005
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1138968/ https://ncbi.nlm.nih.gov/pubmed/15656787 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20041960 |
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