Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).

Míreanna Comhchosúla

• Identification and Characterization of 40 Novel Hydroxymethylbilane Synthase Mutations that Cause Acute Intermittent Porphyria
  le: Chen, Brenden, et al.
  Foilsithe: (2019)
• Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.
  le: Chen, C H, et al.
  Foilsithe: (1994)
• Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations
  le: Clavero, Sonia, et al.
  Foilsithe: (2010)
• Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene
  le: Yang, Jing, et al.
  Foilsithe: (2020)
• Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria
  le: Berger, Stefanie, et al.
  Foilsithe: (2020)