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Article

Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals.

Ophthalmology - 1 Mar 2017

Souzeau Emmanuelle, Tram Kien Hou, Witney Martin, Ruddle Jonathan B, Graham Stuart L, Healey Paul R, Goldberg Ivan, Mackey David A, Hewitt Alex W, Burdon Kathryn P, Craig Jamie E

Abstract excerpt

PURPOSE: To assess the difference in severity of disease in primary open-angle glaucoma (POAG) patients with a Myocilin (MYOC) disease-causing variant who presented through normal clinical pathways (Clinical cases) versus those who were examined following genetic testing (Genetic cases). DESIGN: Retrospective clinical and molecular study. PARTICIPANTS: Seventy-three MYOC mutation carriers identified through the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27993484
DOI: 10.1016/j.ophtha.2016.11.011

Genes

MYOC

Variants

Provenance

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