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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Veröffentlicht in:Sci Rep
Hauptverfasser: Chen, Xue, Liu, Xiaoxing, Sheng, Xunlun, Gao, Xiang, Zhang, Xiumei, Li, Zili, Li, Huiping, Liu, Yani, Rong, Weining, Zhao, Kanxing, Zhao, Chen
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2015
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4354143/
https://ncbi.nlm.nih.gov/pubmed/25753737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep08927
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