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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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2011
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3208571/
https://ncbi.nlm.nih.gov/pubmed/22073273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0027134
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