Article
Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma.
Ophthalmic research - 1 Jan 2007
Messina-Baas O M, González-Huerta L M, Chima-Galán C, Kofman-Alfaro S H, Rivera-Vega M R, Babayán-Mena I, Cuevas-Covarrubias S A
Abstract excerpt
BACKGROUND: Mutations and polymorphisms have been identified in the CYP1B1 gene; while mutations that affect the conserved core structures of cytochrome P4501B1 result in primary congenital glaucoma (PCG), mutations in other regions hold the potential to define differences in estrogen metabolism. In the present study, we analyzed the CYP1B1 gene in Mexican patients with PCG and described four novel mutations....
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