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Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation

✍ Scribed by W.-L. Hwu; P.-J. Wang; K.-J. Hsiao; T.-R. Wang; Y.-W. Chiou; Y.-M. Lee

Book ID
106137274
Publisher
Springer
Year
1999
Tongue
English
Weight
128 KB
Volume
105
Category
Article
ISSN
0340-6717

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Unstable GTP cyclohydrolase I (GCH) mutations in dopa-responsive dystonia (DRD) can exert a dominant-negative effect in the HeLa cell model, but in a batch of cells this effect could not be shown. Through differential display, we found a higher Hsc70 expression in the non-dominant-negative cells. We