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...

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Detalhes bibliográficos
Main Authors: González-del Pozo, María, Borrego, Salud, Barragán, Isabel, Pieras, Juan I., Santoyo, Javier, Matamala, Nerea, Naranjo, Belén, Dopazo, Joaquín, Antiñolo, Guillermo
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2011
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3229495/
https://ncbi.nlm.nih.gov/pubmed/22164218
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0027894
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