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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Detalles Bibliográficos
Autores principales: Xiao, Xiaoqiang, Cao, Yingjie, Chen, Shaowan, Chen, Min, Mai, Xiaoting, Zheng, Yuqian, Zhuang, Xi, Ng, Tsz Kin, Chen, Haoyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363637/
https://www.ncbi.nlm.nih.gov/pubmed/30804660

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