Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).

Παρόμοια τεκμήρια

• Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1
  ανά: Angileri, Francesca, κ.ά.
  Έκδοση: (2015)
• Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.
  ανά: Phaneuf, D, κ.ά.
  Έκδοση: (1991)
• Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1
  ανά: Li, Li, κ.ά.
  Έκδοση: (2017)
• A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation
  ανά: Dreumont, Natacha, κ.ά.
  Έκδοση: (2001)
• Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1
  ανά: Aponte, Jennifer L., κ.ά.
  Έκδοση: (2001)