Identification of five novel mutations in the porphobilinogen deaminase gene.

@article{Mgone1994IdentificationOF,
  title={Identification of five novel mutations in the porphobilinogen deaminase gene.},
  author={Charles S. Mgone and W. George Lanyon and Maureen R Moore and Gordon V. Louie and J. Michael Connor},
  journal={Human molecular genetics},
  year={1994},
  volume={3 5},
  pages={809-11}
}
We have studied the porphobilinogen deaminase gene transcripts from seven unrelated patients from the West of Scotland, all suffering from acute intermittent porphyria. This was achieved by reverse transcription and PCR amplification of mRNA followed by asymmetric amplification and direct sequencing. Five novel and two previously described mutations were identified and found to be single base substitutions. Of the five novel mutations, three were missense (R116Q, T2691, G274R) and two were… CONTINUE READING

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