Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa

Retinitis pigmentosa (RP) is a genetically highly heterogeneous retinal disease and one of the leading causes of blindness in the world. Next-generation sequencing technology has enormous potential for determining the genetic etiology of RP. We sought to identify the underlying genetic defect in a 3...

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Detalles Bibliográficos
Autores principales: Yu, Xinping, Shi, Wei, Cheng, Lulu, Wang, Yanfang, Chen, Ding, Hu, Xuting, Xu, Jinling, Xu, Limin, Wu, Yaming, Qu, Jia, Gu, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726306/
https://www.ncbi.nlm.nih.gov/pubmed/26794436
http://dx.doi.org/10.1038/srep19759

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