Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families

Retinitis pigmentosa (RP) is highly heterogeneous in both clinical and genetic fields. Accurate mutation screening is very beneficial in improving clinical diagnosis and gene-specific treatment of RP patients. The reason for the difficulties in genetic diagnosis of RP is that the ethnic-specific mut...

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Vydáno v:Sci Rep
Hlavní autoři: Huang, Lulin, Zhang, Qi, Huang, Xin, Qu, Chao, Ma, Shi, Mao, Yao, Yang, Jiyun, Li, You, Li, Yuanfeng, Tan, Chang, Zhao, Peiquan, Yang, Zhenglin
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5434011/
https://ncbi.nlm.nih.gov/pubmed/28512305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-00963-6
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