Abstract
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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Lüdecke, B., Dworniczak, B. & Bartholomé, K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet 95, 123–125 (1995). https://doi.org/10.1007/BF00225091
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DOI: https://doi.org/10.1007/BF00225091