Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.

Eitemau Tebyg

• Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
  gan: Lundin, G, et al.
  Cyhoeddwyd: (1995)
• Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.
  gan: Mustajoki, P, et al.
  Cyhoeddwyd: (1985)
• Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
  gan: Delfau, M H, et al.
  Cyhoeddwyd: (1990)
• Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria: IMMUNOLOGIC EVIDENCE FOR HETEROGENEITY OF THE GENETIC DEFECT
  gan: Anderson, Peter M., et al.
  Cyhoeddwyd: (1981)
• Acute intermittent porphyria in two patients on anticonvulsant therapy and with normal erythrocyte porphobilinogen deaminase activity.
  gan: Herrick, A L, et al.
  Cyhoeddwyd: (1989)