| http://purl.uniprot.org/citations/10076897 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10076897 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10076897 | http://www.w3.org/2000/01/rdf-schema#comment | "Dopa-responsive dystonia (DRD) due to mutant GTP cyclohydrolase I (GCH) shows the considerable heterogeneity of clinical phenotypic expression. To explain the clinical diversity, we studied a Japanese family with a novel mutant GCH (GCH-G90V), where an affected heterozygote had a higher mutant/normal mRNA ratio than an unaffected heterozygote. Coexpression experiments using the mutant with wild-type GCH showed that GCH-G90V inactivated the normal enzyme in a dose-dependent manner, suggesting that the dominant negative effect of a mutant GCH on the normal enzyme might be one of the molecular mechanisms for the clinical heterogeneity of DRD."xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0304-3940(98)00984-7"xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0304-3940(98)00984-7"xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/author | "Hirano M."xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/author | "Hirano M."xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/author | "Ueno S."xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/author | "Ueno S."xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/author | "Komure O."xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/author | "Komure O."xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/name | "Neurosci. Lett."xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/name | "Neurosci. Lett."xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/pages | "181-184"xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/pages | "181-184"xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/title | "A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia."xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/title | "A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia."xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/volume | "260"xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://purl.uniprot.org/core/volume | "260"xsd:string |
| http://purl.uniprot.org/citations/10076897 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10076897 |
| http://purl.uniprot.org/citations/10076897 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10076897 |
| http://purl.uniprot.org/citations/10076897 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10076897 |
| http://purl.uniprot.org/citations/10076897 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10076897 |