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A de novo MYOC mutation detected in juvenile open angle glaucoma causes non-secretion of associated with reduced myocilin protein in aqueous humor

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. Gl...

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Autori principali: Kuchtey, John, Chowdhury, Uttio Roy, Uptegraft, Colby C., Fautsch, Michael P., Kuchtey, Rachel W.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3672363/
https://ncbi.nlm.nih.gov/pubmed/23517641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2013.03.002
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