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Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing
Retinitis Pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. RP is the leading cause of visual loss in individuals younger than 60 years, with a prevalence of about 1 in 4000. The molecular genetic diagnosis of autos...
Autores principales: | González-del Pozo, María, Borrego, Salud, Barragán, Isabel, Pieras, Juan I., Santoyo, Javier, Matamala, Nerea, Naranjo, Belén, Dopazo, Joaquín, Antiñolo, Guillermo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3229495/ https://www.ncbi.nlm.nih.gov/pubmed/22164218 http://dx.doi.org/10.1371/journal.pone.0027894 |
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