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Human Genetics

, Volume 95, Issue 1, pp 123–125 | Cite as

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

  • Barbara Lüdecke
  • Bernd Dworniczak
  • Klaus Bartholomé
Clinical Case Report

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.

Keywords

Internal Medicine Tyrosine Metabolic Disease Point Mutation Molecular Basis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Barbara Lüdecke
    • 1
  • Bernd Dworniczak
    • 2
  • Klaus Bartholomé
    • 1
  1. 1.Universitäts-KinderklinikBochumGermany
  2. 2.Institut für Humangenetik der UniversitätMünsterGermany

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