Common Molecular Challenges in Glaucoma.
作者信息
Sarfarazi Mansoor
机构信息
Molecular Ophthalmic Genetics Laboratory, Department of Surgery, University of Connecticut Health Center, Farmington, CT, USA.
出版信息
J Ophthalmic Vis Res. 2015 Apr-Jun;10(2):95-7. doi: 10.4103/2008-322X.163767.
Abstract
摘要
相似文献
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本文引用的文献
1
A Possible Role for LTBP2 in the Etiology of Primary Angle Closure Glaucoma.LTBP2在原发性闭角型青光眼病因学中的可能作用
J Ophthalmic Vis Res. 2015 Apr-Jun;10(2):123-9. doi: 10.4103/2008-322X.163783.
2
3
Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma.对印度北部原发性先天性青光眼人群的LTBP2基因进行筛查。
Mol Vis. 2013;19:78-84. Epub 2013 Jan 17.
4
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.美国原发性先天性青光眼患者中 CYP1B1、MYOC 和 LTBP2 突变。
Am J Ophthalmol. 2013 Mar;155(3):508-517.e5. doi: 10.1016/j.ajo.2012.09.012. Epub 2012 Dec 4.
5
LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.与GLC3C相关家族及94例原发性先天性青光眼CYP1B1阴性病例中的LTBP2基因分析
Ophthalmic Genet. 2013 Mar-Jun;34(1-2):14-20. doi: 10.3109/13816810.2012.716486. Epub 2012 Aug 27.
6
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.LTBP2 突变导致马凡氏综合征和马凡氏综合征样综合征，并影响细胞外基质的破坏。
Hum Mutat. 2012 Aug;33(8):1182-7. doi: 10.1002/humu.22105. Epub 2012 May 29.
7
Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.沙特原发性先天性青光眼家族中CYP1B1和LTBP2基因的筛查：基因型与表型的相关性
Mol Vis. 2011;17:2911-9. Epub 2011 Nov 12.
8
9
A homozygous mutation in LTBP2 causes isolated microspherophakia.LTBP2 基因纯合突变导致孤立性小角膜晶状体。
Hum Genet. 2010 Oct;128(4):365-71. doi: 10.1007/s00439-010-0858-8. Epub 2010 Jul 9.
10
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.常染色体隐性遗传眼病综合征伴大角膜、球形晶状体和继发性青光眼的 LTBP2 基因突变。
Eur J Hum Genet. 2010 Jul;18(7):761-7. doi: 10.1038/ejhg.2010.11. Epub 2010 Feb 24.
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