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Article

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

Scientific reports - 14 Mar 2018

Huang Chukai, Xie Lijing, Wu Zhenggen, Cao Yingjie, Zheng Yuqian, Pang Chi-Pui, Zhang Mingzhi

Abstract excerpt

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, NTF4, WDR36 and CYP1B1 in a cohort of 67 unrelated Chinese JOAG patients. Whole exome sequencing was used to identify...

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Share to Cytochrome P-450 CYP1B1
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29540704
DOI: 10.1038/s41598-018-22337-2
PMCID: PMC5852028

Genes

MYOC
OPTN
NTF4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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