Confirmation of TBK1 duplication in normal tension glaucoma.
作者信息
Kawase Kazuhide, Allingham R Rand, Meguro Akira, Mizuki Nobuhisa, Roos Ben, Solivan-Timpe Frances M, Robin Alan L, Ritch Robert, Fingert John H
出版信息
Exp Eye Res. 2012 Mar;96(1):178-80. doi: 10.1016/j.exer.2011.12.021. Epub 2012 Jan 2.
Abstract
摘要
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本文引用的文献
1
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.12q14 号染色体上的拷贝数变异与正常眼压性青光眼患者。
Hum Mol Genet. 2011 Jun 15;20(12):2482-94. doi: 10.1093/hmg/ddr123. Epub 2011 Mar 29.
2
Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma.一种导致家族性原发性开角型青光眼的视紫质突变体增强了TBK1的结合。
FEBS Lett. 2008 Mar 19;582(6):997-1002. doi: 10.1016/j.febslet.2008.02.047. Epub 2008 Feb 26.
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Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.Toll样受体4变体D299G与年龄相关性黄斑变性易感性相关。
Hum Mol Genet. 2005 Jun 1;14(11):1449-55. doi: 10.1093/hmg/ddi154. Epub 2005 Apr 13.
4
Adult-onset primary open-angle glaucoma caused by mutations in optineurin.由视紫质突变引起的成人型原发性开角型青光眼。
Science. 2002 Feb 8;295(5557):1077-9. doi: 10.1126/science.1066901.
5
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A).与1号染色体开角型青光眼基因（GLC1A）突变相关的临床特征。
N Engl J Med. 1998 Apr 9;338(15):1022-7. doi: 10.1056/NEJM199804093381503.
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