Article
Dense nuclear cataract caused by the gammaB-crystallin S11R point mutation.
Investigative ophthalmology & visual science - 1 Jan 2008
Li Lin, Chang Bo, Cheng Catherine, Chang Da, Hawes Norman L, Xia Chun-hong, Gong Xiaohua
Abstract excerpt
PURPOSE: To identify the causative gene mutation for a new dominant cataract in mice and to investigate the molecular basis for how the mutated gene leads to a dense nuclear cataract. METHODS: Genomewide linkage analysis and DNA sequencing were used to determine the gene mutation. Histology, immunohistochemistry, and Western blotting were used to characterize lens phenotypes. Ion concentrations were measured by...
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