A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

@article{Ldecke1995APM,
  title={A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome},
  author={Barbara L{\"u}decke and B. Dworniczak and Klaus Bartholom{\'e}},
  journal={Human Genetics},
  year={1995},
  volume={95},
  pages={123-125}
}
We have examined the molecular basis of Segawa's syndrome in six families with seven affected children. In one family two siblings with this disease carried a point mutation in exon 11 of the tyrosine hydroxylase gene, resulting in an amino acid exchange of Gln381 to Lys381. These results suggest that a change in tyrosine hydroxylase causes this form of Segawa's syndrome. 

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Comparative studies on the structure of human tyrosine hydroxylase with those of the enzyme of various mammals

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