Self-induced correction of the genetic defect in tyrosinemia type I.

@article{Kvittingen1994SelfinducedCO,
  title={Self-induced correction of the genetic defect in tyrosinemia type I.},
  author={Eli Anne Kvittingen and Helge Rootwelt and Roswitha Berger and P E R Brandtzaeg},
  journal={The Journal of clinical investigation},
  year={1994},
  volume={94 4},
  pages={1657-61}
}
A mosaic pattern of immunoreactive fumarylacetoacetase (FAH) protein was found in liver tissue in 15 of 18 tyrosinemia type I patients of various ethnic origins. One additional patient had variable levels of FAH enzyme activity in liver tissue. In four patients exhibiting mosaicism of FAH protein, analysis for the tyrosinemia-causing mutations was performed in immunonegative and immunopositive areas of liver tissue by restriction digestion analysis and direct DNA sequencing. In all four… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 3 times over the past 90 days. VIEW TWEETS

From This Paper

Topics from this paper.
54 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 54 extracted citations

Similar Papers

Loading similar papers…