Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population

Retinitis pigmentosa (RP) is a rare heterogeneous genetic retinal dystrophy disease, and despite years of research, known genetic mutations can explain only approximately 60% of RP cases. We sought to identify the underlying genetic mutations in a cohort of fourteen Indian autosomal recessive retini...

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Detalles Bibliográficos
Autores principales: Di, Yanan, Huang, Lulin, Sundaresan, Periasamy, Li, Shujin, Kim, Ramasamy, Ballav Saikia, Bibhuti, Qu, Chao, Zhu, Xiong, Zhou, Yu, Jiang, Zhilin, Zhang, Lin, Lin, Ying, Zhang, Dingding, Li, Yuanfen, Zhang, Houbin, Yin, Yibing, Lu, Fang, Zhu, Xianjun, Yang, Zhenglin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726297/
https://www.ncbi.nlm.nih.gov/pubmed/26787102
http://dx.doi.org/10.1038/srep19432

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