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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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Detalles Bibliográficos
Autores principales: Huang, Chukai, Xie, Lijing, Wu, Zhenggen, Cao, Yingjie, Zheng, Yuqian, Pang, Chi-Pui, Zhang, Mingzhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852028/
https://www.ncbi.nlm.nih.gov/pubmed/29540704
http://dx.doi.org/10.1038/s41598-018-22337-2