Article
A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family.
Molecular vision - 11 Sept 2007
Gu Feng, Zhai Hong, Li Dan, Zhao Luxin, Li Chao, Huang Shangzhi, Ma Xu
Abstract excerpt
PURPOSE: To identify the causitive mutation in a five-generation family with autosomal dominant congenital total cataract. METHODS: Clinical and ophthalmological examinations were performed on the affected and unaffected family members. All the members were genotyped with microsatellite markers at loci that were considered to be associated with cataracts. Linkage analysis was performed after genotyping. A...
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