Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa

Retinitis pigmentosa (RP), a heterogeneous group of inherited ocular diseases, is a genetic condition that causes retinal degeneration and eventual vision loss. Though some genes have been identified to be associated with RP, still a large part of the clinical cases could not be explained. Here we r...

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Detalles Bibliográficos
Autores principales: Ma, Xiangyu, Guan, Liping, Wu, Wei, Zhang, Yao, Zheng, Wei, Gao, Yu-Tang, Long, Jirong, Wu, Na, Wu, Long, Xiang, Ying, Xu, Bin, Shen, Miaozhong, Chen, Yanhua, Wang, Yuewen, Yin, Ye, Li, Yingrui, Xu, Haiwei, Xu, Xun, Li, Yafei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4363838/
https://www.ncbi.nlm.nih.gov/pubmed/25783483
http://dx.doi.org/10.1038/srep09236

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