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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2011
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Research Article
Accesso online: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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