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

First Author  Lüdecke B Year  1995
Journal  Hum. Genet. Volume  95
Pages  123-5 PubMed ID  7814018
Abstract Text  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. Doi  10.1007/bf00225091
Issue  1 Month  Jan

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