Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.

@article{LpezGarrido2013NullCG,
  title={Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.},
  author={Mar{\'i}a-Pilar L{\'o}pez-Garrido and Cristina Medina-Trillo and Laura Morales-Fern{\'a}ndez and Juli{\'a}n Garc{\'i}a-Feijo{\'o} and Jos{\'e}-Mar{\'i}a Mart{\'i}nez-de-la-Casa and Maite Garc{\'i}a-Ant{\'o}n and Julio Escribano},
  journal={Ophthalmology},
  year={2013},
  volume={120 4},
  pages={716-23}
}
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 Automatic DNA sequencing of the promoter (-1 to -867) and the 3 CYP1B1 exons. CYP1B1… CONTINUE READING