Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing tech...

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Detalles Bibliográficos
Autores principales: Gong, Bo, Wei, Bo, Huang, Lulin, Hao, Jilong, Li, Xiulan, Yang, Yin, Zhou, Yu, Hao, Fang, Cui, Zhihua, Zhang, Dingding, Wang, Le, Zhang, Houbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466393/
https://www.ncbi.nlm.nih.gov/pubmed/26124963
http://dx.doi.org/10.1155/2015/942740

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466393/
https://www.ncbi.nlm.nih.gov/pubmed/26124963
http://dx.doi.org/10.1155/2015/942740

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