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Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing

Juvenile onset open-angle glaucoma (JOAG) affects patients before 40 years of age, causing high intraocular pressure and severe optic nerve damage. To expand the mutation spectrum of the causative genes in JOAG, with a view to identify novel disease-causing mutations, we investigated MYOC, OPTN, NTF...

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Publicat a:Sci Rep
Autors principals: Huang, Chukai, Xie, Lijing, Wu, Zhenggen, Cao, Yingjie, Zheng, Yuqian, Pang, Chi-Pui, Zhang, Mingzhi
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5852028/
https://ncbi.nlm.nih.gov/pubmed/29540704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-22337-2
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