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Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding an ortholog of Drosophila spacemaker (spam) as a commonly mutated gene in autosomal recessive RP. In...
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| Formato: | Artigo |
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| Idioma: | en |
| Publicado em: |
Wiley Subscription Services, Inc., A Wiley Company
2010
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3045506/ https://ncbi.nlm.nih.gov/pubmed/21069908 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21334 |
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