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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: American Medical Association 2018
Assuntos:
Original Investigation
Acesso em linha: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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