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

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 P...

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Pubblicato in:PLoS One
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2017
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5338784/
https://ncbi.nlm.nih.gov/pubmed/28264060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0172427
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