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Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients

PURPOSE: To identify the mutations in the pre-mRNA processing factor 31 homolog (PRPF31) gene in Chinese families with autosomal dominant retinitis pigmentosa (adRP) and to characterize the clinical features of those patients who were found to have mutations in the PRPF31 gene. METHODS: Detailed ocu...

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Detalles Bibliográficos
Autores principales: Xu, Fei, Sui, Ruifang, Liang, Xiaofang, Li, Hui, Jiang, Ruxin, Dong, Fangtian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534138/
https://www.ncbi.nlm.nih.gov/pubmed/23288994