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Article

Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.

Ophthalmology - 1 Apr 2013

López-Garrido María-Pilar, Medina-Trillo Cristina, Morales-Fernandez Laura, Garcia-Feijoo Julián, Martínez-de-la-Casa José-María, García-Antón Maite, Escribano Julio

Abstract excerpt

PURPOSE: To assess the mutation spectrum, enzymatic activity, and phenotypic features associated with CYP1B1 genotypes in primary congenital glaucoma (PCG) and nondominant juvenile glaucoma (ndJG). DESIGN: CYP1B1 genotyping, segregation analysis, and functional evaluation of mutations in a cohort of patients. PARTICIPANTS: A total of 177 probands clinically diagnosed with PCG (161) or ndJG (16). METHODS:...

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PMID: 23218183
DOI: 10.1016/j.ophtha.2012.09.016

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