Article
Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Feb 2018
Gupta Viney, Somarajan Bindu I, Walia Gagandeep Kaur, Kaur Jasbir, Kumar Sunil, Gupta Shikha, Chaurasia Abadh K, Gupta Dinesh, Kaushik Abhinav, Mehta Aditi, Gupta Vipin, Sharma Arundhati
Abstract excerpt
BACKGROUND: To determine the frequency of CYP1B1 p.E229K and p.R368H, gene mutations in a cohort of sporadic juvenile onset open-angle glaucoma (JOAG) patients and to evaluate their genotype/phenotype correlation. METHODS: Unrelated JOAG patients whose first-degree relatives had been examined and found to be unaffected were included in the study. The patients and their parents were screened for p.E229K and...
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