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GINMU >
03 紀要 >
031 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
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| 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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Files in This Item:
| File |
Description |
Size | Format |
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| 361-364p.HEREDITARY PROGRESSIVE DYSTOMIA.pdf | | 403Kb | Adobe PDF | View/Open |
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