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2. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Bejjani BA; Stockton DW; Lewis RA; Tomey KF; Dueker DK; Jabak M; Astle WF; Lupski JR Hum Mol Genet; 2000 Feb; 9(3):367-74. PubMed ID: 10655546 [TBL] [Abstract][Full Text] [Related]
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4. Molecular genetics of primary congenital glaucoma in Brazil. Stoilov IR; Costa VP; Vasconcellos JP; Melo MB; Betinjane AJ; Carani JC; Oltrogge EV; Sarfarazi M Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1820-7. PubMed ID: 12036985 [TBL] [Abstract][Full Text] [Related]
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6. Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. Chakrabarti S; Kaur K; Kaur I; Mandal AK; Parikh RS; Thomas R; Majumder PP Invest Ophthalmol Vis Sci; 2006 Jan; 47(1):43-7. PubMed ID: 16384942 [TBL] [Abstract][Full Text] [Related]
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8. [A novel mutation of CYP1B1 gene in primary congenital glaucoma]. Huang JF; Zhou J; Wang H; Chen D; Zeng LP; Tong JB; Xia XB; Hu ZM Zhonghua Yan Ke Za Zhi; 2009 Oct; 45(10):875-8. PubMed ID: 20137445 [TBL] [Abstract][Full Text] [Related]
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10. Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma. Messina-Baas OM; González-Huerta LM; Chima-Galán C; Kofman-Alfaro SH; Rivera-Vega MR; Babayán-Mena I; Cuevas-Covarrubias SA Ophthalmic Res; 2007; 39(1):17-23. PubMed ID: 17164573 [TBL] [Abstract][Full Text] [Related]
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12. CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia. Bouyacoub Y; Ben Yahia S; Abroug N; Kahloun R; Kefi R; Khairallah M; Abdelhak S Ann Hum Genet; 2014 Jul; 78(4):255-63. PubMed ID: 24942078 [TBL] [Abstract][Full Text] [Related]
13. Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Chavarria-Soley G; Sticht H; Aklillu E; Ingelman-Sundberg M; Pasutto F; Reis A; Rautenstrauss B Hum Mutat; 2008 Sep; 29(9):1147-53. PubMed ID: 18470941 [TBL] [Abstract][Full Text] [Related]
14. Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Hilal L; Boutayeb S; Serrou A; Refass-Buret L; Shisseh H; Bencherifa F; El Mzibri M; Benazzouz B; Berraho A Mol Vis; 2010 Jul; 16():1215-26. PubMed ID: 20664688 [TBL] [Abstract][Full Text] [Related]
15. CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: novel mutations and association with poor prognosis. Della Paolera M; de Vasconcellos JP; Umbelino CC; Kasahara N; Rocha MN; Richeti F; Costa VP; Tavares A; de Melo MB J Glaucoma; 2010 Mar; 19(3):176-82. PubMed ID: 19528825 [TBL] [Abstract][Full Text] [Related]
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