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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: American Medical Association 2018
Fag:
Original Investigation
Online adgang: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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