RPE65 gene: Multiplex PCR and mutation screening in patients from India with retinal degenerative diseases

@article{Joseph2002RPE65GM,
  title={RPE65 gene: Multiplex PCR and mutation screening in patients from India with retinal degenerative diseases},
  author={Biju Baby Joseph and Anuradha Srinivasan and N Soumittra and A. Priethamje Vidhya and Nitin Shridhara Shetty and Satagopan Uthra and Govindasamy Kumaramanickavel},
  journal={Journal of Genetics},
  year={2002},
  volume={81},
  pages={19-23}
}
We used multiplex PCR followed by sequencing to screen for mutations in the 14 exons of theRPE65 gene in early-hildhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber’s congenital amaurosis (LCA) patients. The RPE65 protein is believed to play an important role in the metabolism of vitamin A in the visual cycle and mutations identified in the gene could have implications for vitamin A-based therapeutic intervention. We were able to identify a homozygous mutation (AAT → AAG) in… CONTINUE READING

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