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GALC Deletions Increase the Risk of Primary Open-Angle Glaucoma: The Role of Mendelian Variants in Complex Disease

DNA copy number variants (CNVs) have been reported in many human diseases including autism and schizophrenia. Primary Open Angle Glaucoma (POAG) is a complex adult-onset disorder characterized by progressive optic neuropathy and vision loss. Previous studies have identified rare CNVs in POAG; howeve...

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Detalles Bibliográficos
Autores principales: Liu, Yutao, Gibson, Jason, Wheeler, Joshua, Kwee, Lydia Coulter, Santiago-Turla, Cecile M., Akafo, Stephen K., Lichter, Paul R., Gaasterland, Douglas E., Moroi, Sayoko E., Challa, Pratap, Herndon, Leon W., Girkin, Christopher A., Budenz, Donald L., Richards, Julia E., Allingham, R. Rand, Hauser, Michael A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208571/
https://www.ncbi.nlm.nih.gov/pubmed/22073273
http://dx.doi.org/10.1371/journal.pone.0027134