Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa

EYS mutations demonstrate great genotypic and phenotypic varieties, and are one of the major causes for patients with autosomal recessive retinitis pigmentosa (ARRP). Here, we aim to determine the genetic lesions with phenotypic correlations in two Chinese families with ARRP. Medical histories and o...

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Detalles Bibliográficos
Autores principales: Chen, Xue, Liu, Xiaoxing, Sheng, Xunlun, Gao, Xiang, Zhang, Xiumei, Li, Zili, Li, Huiping, Liu, Yani, Rong, Weining, Zhao, Kanxing, Zhao, Chen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354143/
https://www.ncbi.nlm.nih.gov/pubmed/25753737
http://dx.doi.org/10.1038/srep08927

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354143/
https://www.ncbi.nlm.nih.gov/pubmed/25753737
http://dx.doi.org/10.1038/srep08927

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