Article
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.
Molecular vision - 22 May 2006
Chavarria-Soley Gabriela, Michels-Rautenstrauss Karin, Pasutto Francesca, Flikier David, Flikier Paul, Cirak Sebahattin, Bejjani Bassem, Winters Daniel L, Lewis Richard A, Mardin Christian, Reis Andre, Rautenstrauss Bernd
Abstract excerpt
PURPOSE: Mutations in the cytochrome P450 1B1 (CYP1B1) gene are a frequent cause of primary congenital glaucoma (PCG) in different ethnic groups. Cytochrome P450 proteins are monooxygenases, which catalyze many reactions involved in the metabolism of drugs as well as steroids and other lipids. The repeated occurence of several mutations in various ethnic groups raises the question if founder effects or...
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