| http://purl.uniprot.org/citations/18519021 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18519021 | http://www.w3.org/2000/01/rdf-schema#comment | "We analysed the parkin gene in a large consecutive series (146) of unrelated early onset Parkinson's disease (onset ?40 years of age) patients. Twelve cases (8.2%) had homozygous or compound heterozygous point mutations and/or exon rearrangements, while a single mutation was found in four subjects (2.7%). We identified eight exon rearrangements and nine point mutations, two of which were novel: c.735delT (p.C212/X224) and c.815C>G (p.C238W). Genotype-phenotype correlation revealed that parkin carriers had features similar to those of non-carrier early onset Parkinson disease patients."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.parkreldis.2007.10.003"xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Mariani C."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Ghezzi D."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Garavaglia B."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Goldwurm S."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Coviello D.A."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Primignani P."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Sironi F."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Pezzoli G."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Zecchinelli A."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Zini M."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Antonini A."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Canesi M."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Meucci N."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Sacilotto G."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Tesei S."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Travi M."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Decarli A."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Cilia R."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Isaias I.U."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Ricca S."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Brambilla T."xsd:string |
| http://purl.uniprot.org/citations/18519021 | http://purl.uniprot.org/core/author | "Ruffmann C."xsd:string |