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Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family

Retinitis pigmentosa (RP) describes a group of inherited retinopathies that are characterized by the progressive degeneration of photoreceptor neurons, which causes night blindness, a reduction in the peripheral visual field and decreased visual acuity. More than 50 RP-related genes have been identi...

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Detalles Bibliográficos
Autores principales:	Jin, Xin, Qu, Ling-Hui, Hou, Bao-Ke, Xu, Hai-Wei, Meng, Xiao-Hong, Pang, Chi-Pui, Yin, Zheng-Qin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2016
Materias:	Original Papers
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4725244/ https://www.ncbi.nlm.nih.gov/pubmed/26802146 http://dx.doi.org/10.1042/BSR20150131

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