Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

Παρόμοια τεκμήρια

• A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.
  ανά: Grandchamp, B, κ.ά.
  Έκδοση: (1989)
• High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
  ανά: Gu, X F, κ.ά.
  Έκδοση: (1992)
• Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
  ανά: Delfau, M H, κ.ά.
  Έκδοση: (1991)
• PCR detection of a G/T polymorphism at exon 10 of the porphobilinogen deaminase gene (PBG-D).
  ανά: Gu, X F, κ.ά.
  Έκδοση: (1991)
• PCR detection of a C/T polymorphism in exon 1 of the porphobilinogen deaminase gene (PBGD)
  ανά: Picat, C., κ.ά.
  Έκδοση: (1991)