Article
A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.
PloS one - 1 Jan 2015
Song Zixun, Wang Lianqing, Liu Yaping, Xiao Wei
Abstract excerpt
PURPOSE: To detect the causative mutation for congenital posterior polar cataracts in a five-generation Chinese family and further explore the potential pathogenesis of this disease. METHODS: Coding exons, with flanking sequences of five candidate genes, were screened using direct DNA sequencing. The identified mutations were confirmed by restriction fragment length polymorphism (RFLP) analysis. A full-length...
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