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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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書目詳細資料
發表在:Sci Rep
Main Authors: Chen, Xue, Liu, Xiaoxing, Sheng, Xunlun, Gao, Xiang, Zhang, Xiumei, Li, Zili, Li, Huiping, Liu, Yani, Rong, Weining, Zhao, Kanxing, Zhao, Chen
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2015
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在線閱讀: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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