Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.

Samankaltaisia teoksia

• Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
  Tekijä: Lundin, G, et al.
  Julkaistu: (1995)
• Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
  Tekijä: Delfau, M H, et al.
  Julkaistu: (1990)
• A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.
  Tekijä: Grandchamp, B, et al.
  Julkaistu: (1989)
• Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
  Tekijä: Puy, H, et al.
  Julkaistu: (1997)
• Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.
  Tekijä: Mustajoki, P, et al.
  Julkaistu: (1985)