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

  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},
  volume={94 4},
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
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