María-Pilar López-Garrido et al.
Ophthalmology, 120(4), 716-723 (2012-12-12)
To assess the mutation spectrum, enzymatic activity, and phenotypic features associated with CYP1B1 genotypes in primary congenital glaucoma (PCG) and nondominant juvenile glaucoma (ndJG). CYP1B1 genotyping, segregation analysis, and functional evaluation of mutations in a cohort of patients. A total