Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber’s congenital amaurosis in unrelated Chinese patients

As the most common inherited retinal degenerations, retinitis pigmentosa (RP) is clinically and genetically heterogeneous. Some of the RP genes are also associated with other retinal diseases, such as LCA (Leber's congenital amaurosis) and CORD (cone-rod dystrophy). Here, in our molecular diagn...

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Detalles Bibliográficos
Autores principales: Huang, Hui, Wang, Ying, Chen, Huishuang, Chen, Yanhua, Wu, Jing, Chiang, Pei-Wen, Fan, Ning, Su, Yan, Deng, Jianlian, Chen, Dongna, Li, Yang, Zhang, Xinxin, Zhang, Mengxin, Liang, Shengran, Banerjee, Santasree, Qi, Ming, Liu, Xuyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471044/
https://www.ncbi.nlm.nih.gov/pubmed/28456785
http://dx.doi.org/10.18632/oncotarget.17052

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