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Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract

Hereditary eye disease: Looking for blindness in the family tree In-depth genomic analysis of the family of a young man with severe visual impairment reveals a new gene involved in eye development. Ocular coloboma encompasses various hereditary disorders in which the eyes form improperly. Many of th...

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Bibliografiska uppgifter
Huvudupphov: Xiu-Feng Huang, Lue Xiang, Wan Cheng, Fei-Fei Cheng, Kai-Wen He, Bo-Wen Zhang, Si-Si Zheng, Ru-Yi Han, Yi-Han Zheng, Xiao-Tao Xu, Huan-Yun Yu, Wenjuan Zhuang, Yuk Fai Leung, Zi-Bing Jin
Materialtyp: Artigo
Språk:Inglês
Utgiven: Nature Publishing Group 2018-04-01
Serie:Experimental and Molecular Medicine
Länkar:https://doi.org/10.1038/s12276-018-0079-0
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