A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.

Eitemau Tebyg

• 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)
• High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
  gan: Gu, X F, et al.
  Cyhoeddwyd: (1992)
• PCR detection of a C/T polymorphism in exon 1 of the porphobilinogen deaminase gene (PBGD)
  gan: Picat, C., et al.
  Cyhoeddwyd: (1991)
• Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
  gan: Puy, H, et al.
  Cyhoeddwyd: (1997)
• Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
  gan: Delfau, M H, et al.
  Cyhoeddwyd: (1991)