Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.
作者信息
Ma Z W, Zheng J Q, Li J, Li X R, Tang X, Yuan X Y, Zhang X M, Sun H M
出版信息
Br J Ophthalmol. 2005 Nov;89(11):1535-7. doi: 10.1136/bjo.2005.075184.
Abstract
摘要
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Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.中国常染色体显性遗传性先天性核性白内障家系中连接蛋白基因的两个新突变。
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本文引用的文献
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Connexin disorders of the ear, skin, and lens.耳部、皮肤和晶状体的连接蛋白疾病。
Biochim Biophys Acta. 2004 Mar 23;1662(1-2):159-70. doi: 10.1016/j.bbamem.2003.10.017.
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A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.一个患有进行性常染色体显性先天性核性白内障的伊朗家庭中的一种新型GJA8突变。
J Med Genet. 2003 Nov;40(11):e124. doi: 10.1136/jmg.40.11.e124.
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Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.一个患有板层粉状白内障的俄罗斯家族中连接蛋白50基因（GJA8）的突变。
Clin Genet. 2001 Dec;60(6):476-8. doi: 10.1034/j.1399-0004.2001.600614.x.
7
Unique and redundant connexin contributions to lens development.连接蛋白对晶状体发育的独特和冗余贡献。
Science. 2002 Jan 11;295(5553):319-20. doi: 10.1126/science.1067582.
8
Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation.小鼠中Gja8（α8连接蛋白）的破坏会导致小眼畸形，并伴有晶状体生长迟缓和晶状体纤维成熟延迟。
Development. 2002 Jan;129(1):167-74. doi: 10.1242/dev.129.1.167.
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The HMMTOP transmembrane topology prediction server.HMMTOP跨膜拓扑结构预测服务器。
Bioinformatics. 2001 Sep;17(9):849-50. doi: 10.1093/bioinformatics/17.9.849.
10
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).与13q11相关的常染色体显性先天性板层粉状白内障（CZP3）及连接蛋白46（GJA3）新突变的进一步证据。
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