Article
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.
American journal of human genetics - 1 Mar 1998
Stoilov I, Akarsu A N, Alozie I, Child A, Barsoum-Homsy M, Turacli M E, Or M, Lewis R A, Ozdemir N, Brice G, Aktan S G, Chevrette L, Coca-Prados M, Sarfarazi M
Abstract excerpt
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 evidence supporting the hypothesis that members of the cytochrome P450 superfamily may control the processes of growth and differentiation. We present a comprehensive sequence analysis of the...
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