A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

Những quyển sách tương tự

• Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1
  Bằng: Angileri, Francesca, et al.
  Được phát hành: (2015)
• Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1
  Bằng: Li, Li, et al.
  Được phát hành: (2017)
• Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
  Bằng: Tanguay, R M, et al.
  Được phát hành: (1990)
• Hereditary tyrosinemia type I–associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate
  Bằng: Macias, Iratxe, et al.
  Được phát hành: (2019)
• Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1
  Bằng: Aponte, Jennifer L., et al.
  Được phát hành: (2001)