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Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the RDS gene
Mutations in the protein product of the retinal degeneration slow (RDS) gene cause both rod-dominant retinitis pigmentosa and different forms of cone-dominant macular dystrophies. In particular, mutations in codon 244 can cause either of these types of disease. In this study we examine the biochemic...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2937569/ https://ncbi.nlm.nih.gov/pubmed/20055437 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/bi901622w |
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