Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

IMPORTANCE: The p.Gln368Ter (rs74315329) risk allele in the myocilin gene (MYOC) was initially reported to have high penetrance in glaucoma registry-based studies, but much lower estimates were recently obtained from population-based studies. We investigated this disparity using data from Australia...

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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:JAMA Ophthalmol
Main Authors: Han, Xikun, Souzeau, Emmanuelle, Ong, Jue-Sheng, An, Jiyuan, Siggs, Owen M., Burdon, Kathryn P., Best, Stephen, Goldberg, Ivan, Healey, Paul R., Graham, Stuart L., Ruddle, Jonathan B., Mills, Richard A., Landers, John, Galanopoulos, Anna, White, Andrew J.R., Casson, Robert, Mackey, David A., Hewitt, Alex W., Gharahkhani, Puya, Craig, Jamie E., MacGregor, Stuart
פורמט: Artigo
שפה:Inglês
יצא לאור: American Medical Association 2018
נושאים:
Original Investigation
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6439786/
https://ncbi.nlm.nih.gov/pubmed/30267046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2018.4477
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