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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: Conley, Shannon M., Stricker, Heidi M., Naash, Muna I.
Formato: Artigo
Idioma:Inglês
Publicado: 2010
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Acceso en liña: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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