Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma

PURPOSE: Myocilin (MYOC) is a well-established primary open-angle glaucoma (POAG) risk gene, with rare variants known to have high penetrance. The most common clinically relevant risk variant, Gln368Ter, has an allele frequency of 0.1% to 0.3% in populations of European ancestry. Detection of rare M...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Invest Ophthalmol Vis Sci
Egile Nagusiak: Gharahkhani, Puya, Burdon, Kathryn P., Hewitt, Alex W., Law, Matthew H., Souzeau, Emmanuelle, Montgomery, Grant W., Radford-Smith, Graham, Mackey, David A., Craig, Jamie E., MacGregor, Stuart
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The Association for Research in Vision and Ophthalmology 2015
Gaiak:
Genetics
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4525674/
https://ncbi.nlm.nih.gov/pubmed/26237198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.15-17305
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