Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

Παρόμοια τεκμήρια

• Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
  ανά: Kvittingen, E A, κ.ά.
  Έκδοση: (1993)
• Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
  ανά: Rootwelt, H., κ.ά.
  Έκδοση: (1994)
• A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
  ανά: Cassiman, David, κ.ά.
  Έκδοση: (2009)
• Self-induced correction of the genetic defect in tyrosinemia type I.
  ανά: Kvittingen, E A, κ.ά.
  Έκδοση: (1994)
• Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease
  ανά: Dursun, A., κ.ά.
  Έκδοση: (2011)