Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1

Antzeko izenburuak

• Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
  nork: Tanguay, R M, et al.
  Argitaratua: (1990)
• A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation
  nork: Dreumont, Natacha, et al.
  Argitaratua: (2001)
• Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1
  nork: Li, Li, et al.
  Argitaratua: (2017)
• Heat Shock Response Associated with Hepatocarcinogenesis in a Murine Model of Hereditary Tyrosinemia Type I
  nork: Angileri, Francesca, et al.
  Argitaratua: (2014)
• Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.
  nork: Phaneuf, D, et al.
  Argitaratua: (1991)