A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.

@article{Belmouden2002ANF,
  title={A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.},
  author={Ahmed Belmouden and Rahma Melki and Maryum Hamdani and Khalid Zaghloul and Abdelouahed Amraoui and Sellama Nadifi and Omar Akhayat and H J Garchon},
  journal={Clinical genetics},
  year={2002},
  volume={62 4},
  pages={334-9}
}
Primary congenital glaucoma (PCG) is a heterogeneous autosomal recessive disorder caused by unknown developmental defect(s) of the anterior chamber of the eye. A member of the cytochrome P450 gene family, CYP1B1, was found to be mutated in PCG patients in different populations, albeit to a variable extent. In this study, CYP1B1 mutations were searched for in 32 unrelated PCG patients from Morocco. Two mutations were detected in 11 (34%) patients. One, 4339delG, is novel and causes a frameshift… CONTINUE READING
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