Glaucoma genetics.
作者信息
Challa Pratap
机构信息
Glaucoma Service, Duke University, Durham, NC 27710, USA.
出版信息
Int Ophthalmol Clin. 2008 Fall;48(4):73-94. doi: 10.1097/IIO.0b013e318187e71a.
Abstract
摘要
相似文献
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Glaucoma genetics.青光眼遗传学
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本文引用的文献
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The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway.原发性开角型青光眼基因WDR36在核糖体RNA加工过程中发挥作用，并与p53应激反应途径相互作用。
Hum Mol Genet. 2008 Aug 15;17(16):2474-85. doi: 10.1093/hmg/ddn147. Epub 2008 May 10.
2
3
Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma.美国假性剥脱性青光眼患者中LOXL1基因多态性分析。
Mol Vis. 2008 Jan 29;14:146-9.
4
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity.在一个具有广泛种族多样性的美国临床人群中，赖氨酰氧化酶样蛋白1（LOXL1）基因中的DNA序列变异与假性剥脱性青光眼相关。
BMC Med Genet. 2008 Feb 6;9:5. doi: 10.1186/1471-2350-9-5.
5
Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population.日本人群中赖氨酰氧化酶样1基因多态性与剥脱综合征
Am J Ophthalmol. 2008 Mar;145(3):582-585. doi: 10.1016/j.ajo.2007.10.023. Epub 2008 Jan 16.
6
Profiling of WDR36 missense variants in German patients with glaucoma.德国青光眼患者中WDR36错义变异的分析
Invest Ophthalmol Vis Sci. 2008 Jan;49(1):270-4. doi: 10.1167/iovs.07-0500.
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Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.祖先的LOXL1变体与澳大利亚白种人的假性剥脱相关，但与北欧人的相比，其外显率明显更低。
Hum Mol Genet. 2008 Mar 1;17(5):710-6. doi: 10.1093/hmg/ddm342. Epub 2007 Nov 23.
8
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States.在美国中西部患者中，赖氨酰氧化酶样蛋白1（LOXL1）突变与剥脱综合征相关。
Am J Ophthalmol. 2007 Dec;144(6):974-975. doi: 10.1016/j.ajo.2007.09.034.
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Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.赖氨酰氧化酶样蛋白1（LOXL1）基因中的常见序列变异会增加剥脱性青光眼的易感性。
Science. 2007 Sep 7;317(5843):1397-400. doi: 10.1126/science.1146554. Epub 2007 Aug 9.
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