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