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.

פריטים דומים

• Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
  מאת: Solis, C., et al.
  יצא לאור: (1999)
• Identification and Characterization of 40 Novel Hydroxymethylbilane Synthase Mutations that Cause Acute Intermittent Porphyria
  מאת: Chen, Brenden, et al.
  יצא לאור: (2019)
• Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations
  מאת: Clavero, Sonia, et al.
  יצא לאור: (2010)
• Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene
  מאת: Yang, Jing, et al.
  יצא לאור: (2020)
• Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.
  מאת: Mustajoki, P, et al.
  יצא לאור: (1985)