Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.

@article{Colomb2003NovelCP,
  title={Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.},
  author={Evelyne Colomb and Josseline Kaplan and Henri-Jean Garchon},
  journal={Human mutation},
  year={2003},
  volume={22 6},
  pages={496}
}
The CYP1B1 gene (GenBank: U56438), a member of the cytochrome P450 gene family, has been shown to be mutated in patients with primary congenital glaucoma (PCG), a rare but severely blinding form of glaucoma. Here, we have investigated CYP1B1 mutations in 31 unrelated French PCG patients. Mutations were found in 15 (48%) patients. Six of these mutations were novel. One, g.3979delA, caused a frameshift followed by a stop codon at residue 59. Two mutations, g.4547C>T (p.Q248X) and g.8167C>T (p… CONTINUE READING

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