Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

@article{StLouis1994IdentificationOA,
  title={Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.},
  author={M.-C. St-Louis and Bernard Leclerc and Jeanne Lain{\'e} and Matti K. Salo and Christer Holmberg and Robert M Tanguay},
  journal={Human molecular genetics},
  year={1994},
  volume={3 1},
  pages={69-72}
}
Hereditary tyrosinemia type I is a metabolic disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH, EC 3.7.1.2), the last enzyme in the catabolic pathway of tyrosine. The molecular basis of FAH deficiency was examined in five Finnish patients suffering from this severe metabolic disease. No immunoreactive FAH nor enzymatic activity were found in their liver. Direct sequencing of the 14 exons of the FAH gene showed a G to A transition, which predicts a change from tryptophan to a… CONTINUE READING

From This Paper

Figures, tables, results, connections, and topics extracted from this paper.
7 Extracted Citations
0 Extracted References
Similar Papers

Citing Papers

Publications influenced by this paper.

Similar Papers

Loading similar papers…