A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.
作者信息
Burdon K P, Wirth M G, Mackey D A, Russell-Eggitt I M, Craig J E, Elder J E, Dickinson J L, Sale M M
机构信息
Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia.
出版信息
J Med Genet. 2004 Aug;41(8):e106. doi: 10.1136/jmg.2004.018333.
Abstract
摘要
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A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.连接蛋白46基因的一种新突变导致常染色体显性遗传性先天性白内障，且具有不完全外显率。
J Med Genet. 2004 Aug;41(8):e106. doi: 10.1136/jmg.2004.018333.
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