| http://purl.uniprot.org/citations/18486522 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18486522 | http://www.w3.org/2000/01/rdf-schema#comment | "A family history of Parkinson's disease (PD) is the most commonly reported risk factor after age, suggesting a genetic component to the disease in a sub-group of patients. Mutations in at least six genes have been identified that can lead to monogenic forms of PD. We screened a sample of 74 early-onset PD cases out of a cohort of 950 patients (onset <50 years) for genetic abnormalities in known familial Parkinsonism genes. A self-reported family history of PD existed for 30 patients (40.5%). Of these, 13 each had a first- or a second-degree relative with PD and four reported a more distant relative with PD. The entire coding region of the PRKN (MIM 602544), DJ-1 (MIM 602533) and PINK1 (MIM 698309) genes, and exon 41 of the LRRK2 gene (MIM 609007) were screened by direct sequencing. All exons of PRKN were examined for gene-dosage abnormalities. Screening identified five patients with putative genetic disease: two patients carried PRKN mutations (p.G12R heterozygous and p.G430D homozygous), one patient carried a p.G411S heterozygous amino acid change in the PINK1 gene and two individuals were heterozygous for the common p.G2019S mutation in LRRK2. No alpha-synuclein or DJ-1 variants were observed. Our data suggest that approximately 7% of early-onset PD cases seen in Queensland movement disorders clinics have mutations involving known PARK genes."xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.parkreldis.2007.11.016"xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/author | "Hattori N."xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/author | "Funayama M."xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/author | "Yoshino H."xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/author | "Buchanan D.D."xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/author | "Imamichi Y."xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/author | "Mellick G.D."xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/author | "Silburn P.A."xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/author | "Siebert G.A."xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/name | "Parkinsonism Relat Disord"xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/pages | "105-109"xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/title | "Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia."xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://purl.uniprot.org/core/volume | "15"xsd:string |
| http://purl.uniprot.org/citations/18486522 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18486522 |
| http://purl.uniprot.org/citations/18486522 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/18486522 |
| http://purl.uniprot.org/uniprot/#_D3JZW5-mappedCitation-18486522 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18486522 |
| http://purl.uniprot.org/uniprot/#_D3K2X1-mappedCitation-18486522 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18486522 |
| http://purl.uniprot.org/uniprot/#_D3K2X2-mappedCitation-18486522 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18486522 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z446-mappedCitation-18486522 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18486522 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z447-mappedCitation-18486522 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18486522 |
| http://purl.uniprot.org/uniprot/#_A0A218N881-mappedCitation-18486522 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18486522 |