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

Ocular coloboma is a developmental structural defect of the eye that often occurs as complex ocular anomalies. However, its genetic etiology remains largely unexplored. Here we report the identification of mutation (c.331C>T, p.R111C) in the IPO13 gene in a consanguineous family with ocular colob...

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Detalhes bibliográficos
Publicado no:Exp Mol Med
Main Authors: Huang, Xiu-Feng, Xiang, Lue, Cheng, Wan, Cheng, Fei-Fei, He, Kai-Wen, Zhang, Bo-Wen, Zheng, Si-Si, Han, Ru-Yi, Zheng, Yi-Han, Xu, Xiao-Tao, Yu, Huan-Yun, Zhuang, Wenjuan, Leung, Yuk Fai, Jin, Zi-Bing
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5938035/
https://ncbi.nlm.nih.gov/pubmed/29700284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s12276-018-0079-0
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