Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1

Lignende værker

• Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1
  af: Li, Li, et al.
  Udgivet: (2017)
• Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1
  af: Angileri, Francesca, et al.
  Udgivet: (2015)
• Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
  af: Tanguay, R M, et al.
  Udgivet: (1990)
• Hereditary tyrosinemia type I–associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate
  af: Macias, Iratxe, et al.
  Udgivet: (2019)
• A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation
  af: Dreumont, Natacha, et al.
  Udgivet: (2001)