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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.
Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, Or M, Lewis RA, Ozdemir N, Brice G, Aktan SG, Chevrette L, Coca-Prados M, Sarfarazi M. Stoilov I, et al. Am J Hum Genet. 1998 Mar;62(3):573-84. doi: 10.1086/301764. Am J Hum Genet. 1998. PMID: 9497261 Free PMC article.
Genetics and biochemistry of primary congenital glaucoma.
Sarfarazi M, Stoilov I, Schenkman JB. Sarfarazi M, et al. Among authors: stoilov i. Ophthalmol Clin North Am. 2003 Dec;16(4):543-54, vi. doi: 10.1016/s0896-1549(03)00062-2. Ophthalmol Clin North Am. 2003. PMID: 14740995 Review.
Molecular genetics of primary congenital glaucoma.
Sarfarazi M, Stoilov I. Sarfarazi M, et al. Among authors: stoilov i. Eye (Lond). 2000 Jun;14 ( Pt 3B):422-8. doi: 10.1038/eye.2000.126. Eye (Lond). 2000. PMID: 11026969 Review.
Molecular genetics of primary congenital glaucoma in Brazil.
Stoilov IR, Costa VP, Vasconcellos JP, Melo MB, Betinjane AJ, Carani JC, Oltrogge EV, Sarfarazi M. Stoilov IR, et al. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1820-7. Invest Ophthalmol Vis Sci. 2002. PMID: 12036985
Enhanced expression of CYP1B1 in Escherichia coli.
Jansson I, Stoilov I, Sarfarazi M, Schenkman JB. Jansson I, et al. Among authors: stoilov i. Toxicology. 2000 Apr 3;144(1-3):211-9. doi: 10.1016/s0300-483x(99)00209-7. Toxicology. 2000. PMID: 10781890
Roles of cytochrome p450 in development.
Stoilov I, Jansson I, Sarfarazi M, Schenkman JB. Stoilov I, et al. Drug Metabol Drug Interact. 2001;18(1):33-55. doi: 10.1515/dmdi.2001.18.1.33. Drug Metabol Drug Interact. 2001. PMID: 11522124 Review.
57 results