| http://purl.uniprot.org/citations/15254937 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15254937 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15254937 | http://www.w3.org/2000/01/rdf-schema#comment | "The frequency and relative contribution of DJ-1 mutations in early-onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD +/- SD, 41.5 +/-7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ-1 gene in addition to assaying the 14,082-bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ-1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5' untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVS1 and IVS5). Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.org/dc/terms/identifier | "doi:10.1002/mds.20131"xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.org/dc/terms/identifier | "doi:10.1002/mds.20131"xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Clark L.N."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Clark L.N."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Waters C."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Waters C."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Marder K."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Marder K."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Mayeux R."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Mayeux R."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Frucht S."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Frucht S."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Harris J."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Harris J."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Ottman R."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Ottman R."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Singleton A."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Singleton A."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Ford B."xsd:string |
| http://purl.uniprot.org/citations/15254937 | http://purl.uniprot.org/core/author | "Ford B."xsd:string |