Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.

Gelijkaardige items

• Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria: IMMUNOLOGIC EVIDENCE FOR HETEROGENEITY OF THE GENETIC DEFECT
  door: Anderson, Peter M., et al.
  Gepubliceerd in: (1981)
• Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.
  door: Desnick, R J, et al.
  Gepubliceerd in: (1985)
• Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
  door: Lundin, G, et al.
  Gepubliceerd in: (1995)
• Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.
  door: Mustajoki, S., et al.
  Gepubliceerd in: (2000)
• High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
  door: Gu, X F, et al.
  Gepubliceerd in: (1992)