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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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Dades bibliogràfiques
Publicat a:Mol Vis
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5568910/
https://ncbi.nlm.nih.gov/pubmed/28867931
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