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A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia

✍ Scribed by Ji-Hoon Kang; Sa-Yoon Kang; Hee-Kyoung Kang; Young-Sang Koh; Joo-Hyuk Im; Myoung Chong Lee


Book ID
114249075
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
136 KB
Volume
26
Category
Article
ISSN
0387-7604

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Hereditary progressive dystonia (HPD) is caused by the mutant gene encoding GTP cyclohydrolase I (GCH). The clinical presentation of this disease varies considerably, and many cases appear to be sporadic. We have previously proposed that this clinical variation may be due to digetential expression o