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Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2P21 Results From Mutations Disrupting Either the Hinge Region or The Conserved Core Structures of Cytochrome P4501B1
(Cell Press, 1998)
We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital glaucoma (PCG) linked to the GLC3A locus on chromosome 2p21. This could be the first direct ...