Identification and Characterization of 40 Novel Hydroxymethylbilane Synthase Mutations that Cause Acute Intermittent Porphyria

Eitemau Tebyg

• Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
  gan: Solis, C., et al.
  Cyhoeddwyd: (1999)
• Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria
  gan: Yasuda, Makiko, et al.
  Cyhoeddwyd: (2019)
• Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease
  gan: Chen, Brenden, et al.
  Cyhoeddwyd: (2016)
• Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations
  gan: Clavero, Sonia, et al.
  Cyhoeddwyd: (2010)
• ACUTE INTERMITTENT PORPHYRIA IN CHILDREN: A CASE REPORT AND REVIEW OF THE LITERATURE
  gan: Balwani, Manisha, et al.
  Cyhoeddwyd: (2016)