Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch’s Membrane

PURPOSE: Genome-wide association studies and targeted sequencing studies of candidate genes have identified common and rare variants that are associated with age-related macular degeneration (AMD). Whole-exome sequencing (WES) studies allow a more comprehensive analysis of rare coding variants acros...

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Detalles Bibliográficos
Autores principales: Corominas, Jordi, Colijn, Johanna M., Geerlings, Maartje J., Pauper, Marc, Bakker, Bjorn, Amin, Najaf, Lores Motta, Laura, Kersten, Eveline, Garanto, Alejandro, Verlouw, Joost A.M., van Rooij, Jeroen G.J., Kraaij, Robert, de Jong, Paulus T.V.M., Hofman, Albert, Vingerling, Johannes R., Schick, Tina, Fauser, Sascha, de Jong, Eiko K., van Duijn, Cornelia M., Hoyng, Carel B., Klaver, Caroline C.W., den Hollander, Anneke I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104593/
https://www.ncbi.nlm.nih.gov/pubmed/29706360
http://dx.doi.org/10.1016/j.ophtha.2018.03.040

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104593/
https://www.ncbi.nlm.nih.gov/pubmed/29706360
http://dx.doi.org/10.1016/j.ophtha.2018.03.040

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