[1]马成霞,郑广瑛,郝莉莉.多形性先天性白内障一家系致病突变筛查*[J].郑州大学学报(医学版),2017,(01):95-97.[doi:10.13705/j.issn.1671-6825.2017.01.025]
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多形性先天性白内障一家系致病突变筛查*()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2017年01期
页码:
95-97
栏目:
临床报道
出版日期:
2017-01-15

文章信息/Info

作者:
马成霞郑广瑛郝莉莉
郑州大学第一附属医院眼科 郑州 450052
关键词:
先天性白内障 多形性白内障 基因突变
DOI:
10.13705/j.issn.1671-6825.2017.01.025

参考文献/References:

[1] REDDY MA,FRANCIS PJ,BERRY V,et al.Molecular genetic basis of inherited cataract and associated phenotypes[J].Surv Ophthalmol,2004,49(3):300
[2] SANTANA A,WAISWO M.The genetic and molecular basis of congenital cataract[J].Arq Bras Oftalmol,2011,74(2):136
[3] NG SB,BUCKINGHAM KJ,LEE C,et al.Exome sequencing identifies the cause of a mendelian disorder[J].Nat Genet,2010,42(1):30
[4] MARDIS ER.A decade's perspective on DNA sequencing technology[J].Nature,2011,470(7333):198
[5] 薛康,吴继红,任慧,等.视网膜母细胞瘤低外显率一家系基因研究[J].中华眼底病杂志,2015,31(6):553
[6] LEE C,IAFRATE AJ,BROTHMAN AR.Copy number variations and clinical cytogenetic diagnosis of constitutional disorders[J].Nat Genet,2007,39(7 suppl):S48
[7] 鞠宏,赵堪兴.晶状体蛋白与先天性白内障[J].中华实验眼科杂志,2009,27(12):1154
[8] 齐艳华,马兰茗.晶状体蛋白βB2基因突变导致常染色体显性遗传先天性白内障[J].眼科新进展,2008,28(9):676
[9] WANG L,LIN H,GU J,et al.Autosomal-dominant cerulean cataract in a Chinese family associated with gene conversion mutation in beta-B2-crystallin[J].Ophthalmic Res,2009,41(3):148
[10]YAO K,LI J,JIN C,et al.Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family[J].Mol Vis,2011,17:144
[11]SANTHIYA T,MANISASTRY SM,RAWLLEY D,et al.Mutation analysis of congenital cataracts in Indian families: identification of SNPs and a new causative allele in CRYBB2 gene[J].Invest Ophthalmol Vis Sci,2004,45(10):3599
[12]王冬冬,杨海军,易敬林,等.先天性白内障相关晶状体蛋白质基因的研究进展[J].中华眼科杂志,2016,52(2):141

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备注/Memo

备注/Memo:
*河南省高新技术应用项目 201202010
#通信作者,女,1959年4月生,博士,教授,主任医师,研究方向:白内障,E-mail:zzzgy@zzu.edu.cn
更新日期/Last Update: 2017-01-20