Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing

PURPOSE: Mutations in 60 known genes were previously identified by exome sequencing in 79 of 157 families with retinitis pigmentosa (RP). This study analyzed variants in 129 genes associated with other forms of hereditary retinal dystrophy in the same cohort. METHODS: Apart from the 73 genes previou...

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Detalles Bibliográficos
Autores principales: Xu, Yan, Guan, Liping, Xiao, Xueshan, Zhang, Jianguo, Li, Shiqiang, Jiang, Hui, Jia, Xiaoyun, Yang, Jianhua, Guo, Xiangming, Yin, Ye, Wang, Jun, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415588/
https://www.ncbi.nlm.nih.gov/pubmed/25999675

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415588/
https://www.ncbi.nlm.nih.gov/pubmed/25999675

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