Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.

@article{Dimasi2007PrevalenceOC,
  title={Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.},
  author={David P. Dimasi and Alex W. Hewitt and Tania Straga and John Pater and Jane R. Mackinnon and James E. Elder and Theresa Casey and David A Mackey and Jamie Evan Craig},
  journal={Clinical genetics},
  year={2007},
  volume={72 3},
  pages={255-60}
}
Analysis of CYP1B1 in primary congenital glaucoma (PCG) patients from various ethnic populations indicates that allelic heterogeneity is high, and some mutations are population specific. No study has previously reported the rate or spectrum of CYP1B1 mutations in Australian PCG patients. The aim of this study is to determine the frequency of CYP1B1 mutations in our predominately Caucasian, Australian cohort of PCG cases. Thirty-seven probands were recruited from South-Eastern Australia, along… CONTINUE READING