Identifcation of a Novel Mutation p.I240T in the FRMD7 gene in a Family with Congenital Nystagmus

Congenital Nystagmus (CN) is a genetically heterogeneous ocular disease, which causes a significant proportion of childhood visual impairment. To identify the underlying genetic defect of a CN family, twenty-two members were recruited. Genotype analysis showed that affected individuals shared a comm...

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Main Authors: Zhu, Yihua, Zhuang, Jianfu, Ge, Xianglian, Zhang, Xiao, Wang, Zheng, Sun, Ji, Yang, Juhua, Gu, Feng
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2013
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3812648/
https://ncbi.nlm.nih.gov/pubmed/24169426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep03084
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