Identification of five novel mutations in the porphobilinogen deaminase gene (1994)
S.Mgone, Charles, Lanyon, W.George, R.Moore, Michael, Louie, Gordon V., Connor, James M.
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...