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Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis

KIF11 gene mutations cause a rare autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR). Recently, such mutations were also found to be associated with familial exudative vitreoretinopathy (FEVR). Here, we report 7 nov...

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Bibliografiske detaljer
Udgivet i:Sci Rep
Main Authors: Li, Jia-Kai, Fei, Ping, Li, Yian, Huang, Qiu-Jing, Zhang, Qi, Zhang, Xiang, Rao, Yu-Qing, Li, Jing, Zhao, Peiquan
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4876406/
https://ncbi.nlm.nih.gov/pubmed/27212378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep26564
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