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Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa

Retinitis pigmentosa (RP) is a heterogeneous set of hereditary eye diseases, characterized by selective death of photoreceptor cells in the retina, resulting in progressive visual impairment. Approximately 20–40% of RP cases are autosomal dominant RP (ADRP). In this study, a Chinese ADRP family prev...

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Detalles Bibliográficos
Autores principales: Zhong, Zilin, Yan, Min, Sun, Wan, Wu, Zehua, Han, Liyun, Zhou, Zheng, Zheng, Fang, Chen, Jianjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122955/
https://www.ncbi.nlm.nih.gov/pubmed/27886254
http://dx.doi.org/10.1038/srep37840