Achary MS, Reddy AB, Chakrabarti S, Panicker SG, Mandal AK, Ahmed N,Balasubramanian D, Hasnain SE, Nagarajaram HA. Disease-causing mutations inproteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans. Biophys J. 2006 Dec 15;91(12):4329-39.
Bayat B, Yazdani S, Alavi A, Chiani M, Chitsazian F, Tusi BK, Suri F,Narooie-Nejhad M, Sanati MH, Elahi E. Contributions of MYOC and CYP1B1 mutations to JOAG. Mol Vis. 2008 Mar 13;14:508-17.
Chavarria-Soley G, Sticht H, Aklillu E, Ingelman-Sundberg M, Pasutto F, ReisA, Rautenstrauss B. Mutations in CYP1B1 cause primary congenital glaucoma byreduction of either activity or abundance of the enzyme. Hum Mutat. 2008Sep;29(9):1147-53. doi: 10.1002/humu.20786.
Chen Y, Jiang D, Yu L, Katz B, Zhang K, Wan B, Sun X. CYP1B1 and MYOCmutations in 116 Chinese patients with primary congenital glaucoma. ArchOphthalmol. 2008 Oct;126(10):1443-7. doi: 10.1001/archopht.126.10.1443.
Edward D, Al Rajhi A, Lewis RA, Curry S, Wang Z, Bejjani B. Molecular basis ofPeters anomaly in Saudi Arabia. Ophthalmic Genet. 2004 Dec;25(4):257-70.
Melki R, Colomb E, Lefort N, Brézin AP, Garchon HJ. CYP1B1 mutations in Frenchpatients with early-onset primary open-angle glaucoma. J Med Genet. 2004Sep;41(9):647-51.
Ray K, Mukhopadhyay A, Acharya M. Recent advances in molecular genetics ofglaucoma. Mol Cell Biochem. 2003 Nov;253(1-2):223-31. Review.
Vasiliou V, Gonzalez FJ. Role of CYP1B1 in glaucoma. Annu Rev PharmacolToxicol. 2008;48:333-58. Review.
Vincent A, Billingsley G, Priston M, Glaser T, Oliver E, Walter M, Ritch R,Levin A, Heon E. Further support of the role of CYP1B1 in patients with Petersanomaly. Mol Vis. 2006 May 16;12:506-10.
Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T,Oliver E, Walter MA, Heathcote G, Levin A, Héon E. Phenotypic heterogeneity ofCYP1B1: mutations in a patient with Peters' anomaly. J Med Genet. 2001May;38(5):324-6.
Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Héon E. Digenic inheritance of early-onset glaucoma: CYP1B1, a potentialmodifier gene. Am J Hum Genet. 2002 Feb;70(2):448-60.
Weisschuh N, Schiefer U. Progress in the genetics of glaucoma. Dev Ophthalmol.2003;37:83-93. Review.
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