Mutation spectrum of EYS in Spanish pati
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Isabel Barragán; Salud Borrego; Juan Ignacio Pieras; María González-del Pozo; Ja
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Article
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2010
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John Wiley and Sons
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English
⚖ 309 KB
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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