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Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa

PURPOSE: Retinitis pigmentosa (RP) belongs to a group of inherited retinal diseases with high genetic heterogeneity. This study aimed at identifying the disease-causing variants in patients with autosomal recessive RP. METHODS: Three RP families with autosomal recessive inheritance and 139 sporadic...

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Publicat a:Mol Vis
Autors principals: Xiao, Xiaoqiang, Cao, Yingjie, Chen, Shaowan, Chen, Min, Mai, Xiaoting, Zheng, Yuqian, Zhuang, Xi, Ng, Tsz Kin, Chen, Haoyu
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2019
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6363637/
https://ncbi.nlm.nih.gov/pubmed/30804660
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