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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Detalhes bibliográficos
Main Authors: Barragán, Isabel, Borrego, Salud, Pieras, Juan Ignacio, Pozo, María González-del, Santoyo, Javier, Ayuso, Carmen, Baiget, Montserrat, Millan, José M, Mena, Marcela, El-Aziz, Mai M Abd, Audo, Isabelle, Zeitz, Christina, Littink, Karin W, Dopazo, Joaquín, Bhattacharya, Shomi S, Antiñolo, Guillermo
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Subscription Services, Inc., A Wiley Company 2010
Assuntos:
Mutation in Brief
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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