Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.

Ítems similars

• Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
  per: Rootwelt, H., et al.
  Publicat: (1994)
• Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
  per: Kvittingen, E A, et al.
  Publicat: (1993)
• A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
  per: Cassiman, David, et al.
  Publicat: (2009)
• Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease
  per: Dursun, A., et al.
  Publicat: (2011)
• Self-induced correction of the genetic defect in tyrosinemia type I.
  per: Kvittingen, E A, et al.
  Publicat: (1994)