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Article

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.

PloS one - 1 Jan 2017

Zhou Tiger, Souzeau Emmanuelle, Sharma Shiwani, Landers John, Mills Richard, Goldberg Ivan, Healey Paul R, Graham Stuart, Hewitt Alex W, Mackey David A, Galanopoulos Anna, Casson Robert J, Ruddle Jonathan B, Ellis Jonathan, Leo Paul, Brown Matthew A, MacGregor Stuart, Lynn David J, Burdon Kathryn P, Craig Jamie E

Abstract excerpt

PURPOSE: To identify biological processes associated with POAG and its subtypes, high-tension (HTG) and normal-tension glaucoma (NTG), by analyzing rare potentially damaging genetic variants. METHODS: A total of 122 and 65 unrelated HTG and NTG participants, respectively, with early onset advanced POAG, 103 non-glaucoma controls and 993 unscreened ethnicity-matched controls were included in this study. Study...

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PMID: 28264060
DOI: 10.1371/journal.pone.0172427
PMCID: PMC5338784

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Source receipt: pubmed, retrieved 7 Sept 2026.

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