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Article

Genomic Characterization of TBK1 Duplication in Korean Normal-tension Glaucoma Patients.

Journal of glaucoma - 1 May 2020

Kim Man Jin, Kim Yong Woo, Jeoung Jin Wook, Seong Moon-Woo, Lee Jee-Soo, Kim Dong Myung, Ahn Joo Hyun, Song Ji Yun, Cho Sung Im, Park Sung Sup, Kim Ji Yeon

Abstract excerpt

PRéCIS:: One (0.2%) of 418 Korean normal-tension glaucoma (NTG) patients had TBK1 duplication. The putative mechanism of TBK1 duplication in Korean NTG patients is the nonhomologous end-joining. PURPOSE: TBK1 duplication is a genomic cause of familial NTG. NTG accounts for up to 90% of primary open-angle glaucoma in Koreans, with genetic tendency. We aimed to investigate the prevalence of TBK1 duplication in...

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Identifiers

PMID: 32079994
DOI: 10.1097/IJG.0000000000001466

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