Tyrosinaemia type I—de novo mutation in liver tissue suppressing an inborn splicing defect

@article{Bliksrud2005TyrosinaemiaTI,
  title={Tyrosinaemia type I—de novo mutation in liver tissue suppressing an inborn splicing defect},
  author={Yngve Thomas Bliksrud and Else Brodtkorb and Per Arne Andresen and Inge E.T. van den Berg and Eli Anne Kvittingen},
  journal={Journal of Molecular Medicine},
  year={2005},
  volume={83},
  pages={406-410}
}
Many patients with tyrosinaemia type 1 have a mosaic pattern of fumarylacetoacetase (FAH) immunopositive or immunonegative nodules in liver tissue. This phenomenon has been explained by a spontaneous reversion of the mutation in one allele to a normal genotype, but only a few nodules have been examined. We now report on a Norwegian patient, compound heterozygous for the mutations IVS12g+5→a and G1009→A, with liver mosaicism, but with an immunopositive nodule in which both primary mutations were… CONTINUE READING