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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Invest Ophthalmol Vis Sci
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: The Association for Research in Vision and Ophthalmology 2015
Assuntos:
Genetics
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares