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Article

A Novel αB-Crystallin Mutation Associated with Autosomal Dominant Congenital Lamellar Cataract

27 Feb 2006

Abstract excerpt

PURPOSE: To identify the mutation and the underlying mechanism of cataractogenesis in a five-generation autosomal dominant congenital lamellar cataract family. METHODS: Nineteen mutation hot spots associated with autosomal dominant congenital cataract have been screened by PCR-based DNA sequencing. Recombinant wild-type and mutant human alphaB-crystallin were expressed in Escherichia coli and purified to...

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PMID: 16505043
DOI: 10.1167/iovs.05-1004

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