Article
Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.
Molecular vision - 1 Jan 2009
Jiang Jin, Jin Chongfei, Wang Wei, Tang Xiajing, Shentu Xingchao, Wu Renyi, Wang Yao, Xia Kun, Yao Ke
Abstract excerpt
PURPOSE: To map the locus and identify the gene causing autosomal dominant congenital cataract (ADCC) with "snail-like" phenotype in a large Chinese family. METHODS: Clinical and ophthalmologic examinations were conducted on family members and documented by slit lamp photography. Linkage analysis was performed with an initial 41 microsatellite markers, then 3 additional markers flanking the major intrinsic...
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