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Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins

BACKGROUND: Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism remains unknown, it has been hypothesized that haploinsufficiency might be involved in the pathophysiology of the disease. METHODS: In this study, we have analyzed a m...

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Detalles Bibliográficos
Autores principales:	Valdés-Sánchez, Lourdes, Calado, Sofia M., de la Cerda, Berta, Aramburu, Ana, García-Delgado, Ana Belén, Massalini, Simone, Montero-Sánchez, Adoración, Bhatia, Vaibhav, Rodríguez-Bocanegra, Eduardo, Diez-Lloret, Andrea, Rodríguez-Martínez, Daniel, Chakarova, Christina, Bhattacharya, Shom S., Díaz-Corrales, Francisco J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938640/ https://www.ncbi.nlm.nih.gov/pubmed/31892304 http://dx.doi.org/10.1186/s10020-019-0124-z

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