Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors

Retinitis pigmentosa (RP), the most common type of inherited retinal degeneration causing blindness, initially manifests as severely impaired rod function followed by deteriorating cone function. Mutations in the rhodopsin gene (RHO) are the most common cause of autosomal dominant RP (adRP). The pre...

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Detalles Bibliográficos
Autores principales: Wu, Yuan, Guo, Yi, Yi, Junhui, Xu, Hongbo, Yuan, Lamei, Yang, Zhijian, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629948/
https://www.ncbi.nlm.nih.gov/pubmed/31239368
http://dx.doi.org/10.1042/BSR20182198

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