PCR detection of a G/T polymorphism at exon 10 of the porphobilinogen deaminase gene (PBG-D).

Antzeko izenburuak

• PCR detection of a C/T polymorphism in exon 1 of the porphobilinogen deaminase gene (PBGD)
  nork: Picat, C., et al.
  Argitaratua: (1991)
• A PstI polymorphism for the human porphobilinogen deaminase gene (PBG).
  nork: Lee, J S, et al.
  Argitaratua: (1987)
• Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
  nork: Delfau, M H, et al.
  Argitaratua: (1990)
• High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
  nork: Gu, X F, et al.
  Argitaratua: (1992)
• A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.
  nork: Grandchamp, B, et al.
  Argitaratua: (1989)