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Research Article

Hereditary tyrosinaemia type I in Norway: Incidence and three novel small deletions in the fumarylacetoacetase gene

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Pages 369-373 | Received 30 Dec 2011, Accepted 11 Mar 2012, Published online: 04 May 2012

References

  • Mitchell GA, Grompe M, Lambert M, Tanguay RM. Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic & molecular bases of inherited disease. New York: McGraw-Hill; 2001. pp. 1777–805.
  • Phaneuf D, Labelle Y, Berube D, Arden K, Cavenee W, Gagne R, Tanguay RM. Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. Am J Hum Genet 1991;48: 525–35.
  • Labelle Y, Phaneuf D, Leclerc B, Tanguay RM. Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. Hum Mol Genet 1993;2:941–6.
  • Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. The Human Gene Mutation Database: 2008 update. Genome Med 2009;1:13.
  • Imtiaz F, Rashed MS, Al-Mubarak B, Allam R, El-Karaksy H, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Meyer BF, Al-Sayed M. Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin 1. Mol Genet Metab 2011;104:688–90.
  • Kim SZ, Kupke KG, Ierardi-Curto L, Holme E, Greter J, Tanguay RM, Poudrier J, D’Astous M, Lettre F, Hahn SH, Levy HL. Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. J Inherit Metab Dis 2000;23:791–804.
  • De Braekeleer M, Larochelle J. Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. Am J Hum Genet 1990;47:302–7.
  • Rootwelt H, Hoie K, Berger R, Kvittingen EA. Fumarylacetoacetase mutations in tyrosinaemia type I. Hum Mutat 1996;7:239–43.
  • Bateman RL, Bhanumoorthy P, Witte JF, McClard RW, Grompe M, Timm DE. Mechanistic inferences from the crystal structure of fumarylacetoacetate hydrolase with a bound phosphorus-based inhibitor. J Biol Chem 2001;276:15284–91.
  • Holme E, Lindstedt S. Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). J Inherit Metab Dis 1998;21:507–17.
  • Statistics Norway®. Accessed 6 December 2011 from: http://www.ssb.no
  • Larkin MA, Blackshields G, Brown NP, Chenna R, McGettigan PA, McWilliam H, Valentin F, Wallace IM, Wilm A, Lopez R, Thompson JD, Gibson TJ, Higgins DG. Clustal W and Clustal X version 2.0. Bioinformatics 2007;23:2947–8.
  • Lejeune F, Maquat LE. Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr Opin Cell Biol 2005;17:309–15.

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