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Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing

PURPOSE: To detect the disease-causing gene in a Chinese pedigree with autosomal-recessive retinitis pigmentosa (ARRP). METHODS: All subjects in this family underwent a complete ophthalmic examination. Targeted-capture next generation sequencing (NGS) was performed on the proband to detect variants....

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Detalles Bibliográficos
Autores principales:	Lu, Lan, Wang, Xizhen, Lo, David, Weng, Jingning, Liu, xiaohong, Yang, Juhua, He, Fen, Wang, Yun, Liu, Xuyang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Impact Journals LLC 2016
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346751/ https://www.ncbi.nlm.nih.gov/pubmed/27806333 http://dx.doi.org/10.18632/oncotarget.12971

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