| http://purl.uniprot.org/citations/7874165 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7874165 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7874165 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows a marked response without any side effects to levodopa. Recently the gene for dopa responsive dystonia (DRD) was mapped to chromosome 14q. Here we report that GTP cyclohydrolase I is mapped to 14q22.1-q22.2. The identification of four independent mutations of the gene for GTP cyclohydrolase I in patients with HPD, as well as a marked decrease in the enzyme's activity in mononuclear blood cells, confirms that the GTP cyclohydrolase I gene is a causative gene for HPD/DRD. This is the first report of a causative gene for the inherited dystonias."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1194-236"xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1194-236"xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Fujita K."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Fujita K."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Nomura Y."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Nomura Y."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Takahashi E."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Takahashi E."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Tanaka H."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Tanaka H."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Seki N."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Seki N."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Hori T."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Hori T."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Ichinose H."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Ichinose H."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Tsuji S."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Tsuji S."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Endo K."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Endo K."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Ohye T."xsd:string |
| http://purl.uniprot.org/citations/7874165 | http://purl.uniprot.org/core/author | "Ohye T."xsd:string |