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R. Dada, M. Tanwar, R. Sihota, V. Gupta, T. Dada; Mutation Profile of CYP1B1 Gene in North Indian Congenital Glaucoma Patients. Invest. Ophthalmol. Vis. Sci. 2009;50(13):869.
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To investigate the predominant mutations in CYP1B1 gene in north-indian PCG patients.
On PCR-RFLP analysis total 20/50 (40%) showed either of these mutation. Ter@223 was found in 18%, R390C in 16% and R368H in 8% cases. On DNA sequencing R390C mutation was found to be R390H and three novel (L24R, F190L and R390D) mutations were revealed. Total 44% cases had CYP1B1 mutations.
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