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 , N...

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Veröffentlicht in:	Scientific reports 2018-03, Vol.8 (1), p.4498-8, Article 4498
Hauptverfasser:	Huang, Chukai, Xie, Lijing, Wu, Zhenggen, Cao, Yingjie, Zheng, Yuqian, Pang, Chi-Pui, Zhang, Mingzhi
Format:	Artikel
Sprache:	eng
Schlagworte:	45 45/70 631/208/514/2254 692/699/3161/3169/3170 Glaucoma Humanities and Social Sciences multidisciplinary Mutation Optic nerve Pathogenicity Population studies Science Science (multidisciplinary)
Online-Zugang:	Volltext
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