Article
Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
Molecular vision - 19 Jun 2007
Pauli Silke, Söker Torben, Klopp Norman, Illig Thomas, Engel Wolfgang, Graw Jochen
Abstract excerpt
PURPOSE: The study demonstrates the functional candidate gene analysis in a cataract family of German descent. METHODS: We screened a German family, clinically documented to have congenital cataracts, for mutation in the candidate genes CRYG (A to D) and CRYBB2 through polymerase chain reaction analyses and sequencing. RESULTS: Congenital cataract was first observed in a daughter of healthy parents. Her two...
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