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Article

A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor.

European journal of medical genetics - 1 Jun 2013

Kuchtey John, Chowdhury Uttio Roy, Uptegraft Colby C, Fautsch Michael P, Kuchtey Rachel W

Abstract excerpt

MYOC mutations were originally identified in patients with juvenile open angle glaucoma (JOAG). Cell culture and mouse studies suggest that MYOC mutations cause glaucoma through a dominant-negative effect on myocilin protein secretion. We tested this hypothesis with patient samples in this study. Glaucoma and control patients underwent complete ocular examination. DNA samples from glaucoma patients, unaffected...

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Source

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Identifiers

PMID: 23517641
DOI: 10.1016/j.ejmg.2013.03.002
PMCID: PMC3672363

Genes

MYOC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor.PMID 23517641Read ↗

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