Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria.

@article{Morgan2002FunctionalSO,
  title={Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria.},
  author={Rhian R Morgan and Silva Vasco da and H. S. Puy and Jean-charles Deybach and George H. Elder},
  journal={Cellular and molecular biology},
  year={2002},
  volume={48 1},
  pages={79-82}
}
The autosomal dominant disorder, variegate porphyria (VP), results from mutations in the protoporphyrinogen oxidase (PPOX) gene. We have investigated the effects of 22 disease-associated missense mutations in this gene on enzyme activity. Mutants were generated in the expression plasmid pHPPOX by site-directed mutagenesis. They were screened for PPOX activity by complementation of the Escherischia coli strain SAS38X which lacks PPOX activity. Ten mutants (G40E, L85P, G232R, de1281H, V282D… CONTINUE READING
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