Published in
Association for Research in Vision and Ophthalmology, Investigative Ophthalmology & Visual Science, 12(55), p. 8251-8258
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DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma
Journal article published in 2014 by
Yutao Liu,
Melanie E. Garrett,
Brian L. Yaspan 
,
Jessica Cooke Bailey,
Stephanie J. Loomis,
Murray Brilliant,
Donald L. Budenz,
William G. Christen,
John H. Fingert,
Douglas Gaasterland,
Terry Gaasterland,
Jae H. Kang,
Richard K. Lee,
Paul Lichter,
Sayoko E. Moroi
and other authors.
,
Jessica Cooke Bailey,
Stephanie J. Loomis,
Murray Brilliant,
Donald L. Budenz,
William G. Christen,
John H. Fingert,
Douglas Gaasterland,
Terry Gaasterland,
Jae H. Kang,
Richard K. Lee,
Paul Lichter,
Sayoko E. Moroi
and other authors.
This paper is made freely available by the publisher.
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Abstract
Our study examined DNA copy number variants of known glaucoma genes in two large cohorts - NEIGHBOR and GLAUGEN. We identified rare deletions and/or duplications in a few glaucoma genes only in POAG cases. Our data suggest potential role of these rare CNVs in POAG pathogenesis.