Hereditary tyrosinaemia type I : Studies on the molecular genetics and DNA repair enzymes
Metadata
Show metadataAppears in the following Collection
- Institutt for klinisk medisin [10814]
Abstract
No abstract.List of papers
Paper I: Bliksrud YT, Brodtkorb E, Paul Hoff Backe, Woldseth B, Rootwelt H Hereditary Tyrosinaemia type I in Norway: Incidence and 3 novel small deletions in the Fumarylacetoacetase gene. Accepted version, published in: Scand J Clin Lab Invest. 2012 Sep;72(5):369-73. The published version of this paper is available at: https://doi.org/10.3109/00365513.2012.676210 |
Paper II: Bliksrud YT, Brodtkorb E, Andresen PA, van den Berg IE, Kvittingen EA. Tyrosinaemia type I - de novo mutation in liver tissue suppressing an inborn splicing defect J Mol Med (Berl). 2005 May;83(5):406-10. The paper is removed from the thesis in DUO due to publisher restrictions. The published version is available at: https://doi.org/10.1007/s00109-005-0648-2 |
Paper III: Bliksrud YT, Ellingsen A, Bjørås M. Fumarylacetoacetate inhibits the initial step of the base excision repair pathway; implication for the pathogenesis of tyrosinaemia type I J Inherit Metab Dis. 2012 Nov 9. The published version of this paper is available at: https://doi.org/10.1007/s10545-012-9556-0 |