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01121 Journal of Nara Medical Association >
Vol.47 No.6 >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10564/764

Title: HEREDITARY PROGRESSIVE DYSTOMIA : AN INITIATION CODON MUTATION IN THE GTP CYCLOHYDROLASE I GENE
Authors: Ueno, Satoshi
Keywords: hereditary progressive dystonia
dopa-responsive dystonia
fluctuation
Issue Date: 31-Dec-1996
Publisher: 奈良医学会
Citation: 奈良医学雑誌 Vol.47 No.6 p.361-364
Abstract: We studied the GTP cyclohydrolase I gene in a patient with hereditary progressive dystonia with marked diurnal fluctuation (HPD)/dopa-responsive dystonia (DRD). The patient was heterozygous for a G to C substitution in the initiation codon of this enzyme gene. As this transversion produced a new site for Tap Ⅰ, the restriction site analysis ascertained that the mutation was specific for this patient. The putative transla- tion, starting from the next AUG codon, will produce 46-amino acid peptide without GTP cyclohydrolase I activity. This is a new type of molecular deficit in the GTP cyclohydrolase gene, that causes HPD/DRD.
URI: http://hdl.handle.net/10564/764
ISSN: 04695550
13450069
Appears in Collections:Vol.47 No.6

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