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

Podobne zapisy

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