Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

Ítems similars

• A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.
  per: Grandchamp, B, et al.
  Publicat: (1989)
• Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
  per: Delfau, M H, et al.
  Publicat: (1990)
• Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
  per: Delfau, M H, et al.
  Publicat: (1991)
• Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.
  per: Schuurmans, M. M., et al.
  Publicat: (2001)
• Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria: IMMUNOLOGIC EVIDENCE FOR HETEROGENEITY OF THE GENETIC DEFECT
  per: Anderson, Peter M., et al.
  Publicat: (1981)