Genomic organization of TBK1 copy number variations in glaucoma patients

BACKGROUND: Approximately 1% of normal tension glaucoma cases are caused by TANK binding kinase 1 (TBK1) gene duplications and triplications. However, the precise borders and orientation of these TBK1 gene copy number variations (CNVs) on chromosome 12 are unknown. METHODS: We determined the exact b...

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Pubblicato in:J Glaucoma
Autori principali: DeLuca, Adam P., Alward, Wallace, L.M., Liebmann, Jeffrey, Ritch, Robert, Kawase, Kazuhide, Kwon, Young H., Robin, Alan L., Stone, Edwin M., Scheetz, Todd E., Fingert, John H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2017
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5716909/
https://ncbi.nlm.nih.gov/pubmed/28984711
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/IJG.0000000000000792
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