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Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy

PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given patient....

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Detalhes bibliográficos
Publicado no:Mol Vis
Main Authors: Huang, Xiao-Yan, Zhuang, Hong, Wu, Ji-Hong, Li, Jian-Kang, Hu, Fang-Yuan, Zheng, Yu, Tellier, Laurent Christian Asker M., Zhang, Sheng-Hai, Gao, Feng-Juan, Zhang, Jian-Guo, Xu, Ge-Zhi
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5568910/
https://ncbi.nlm.nih.gov/pubmed/28867931
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