http://purl.uniprot.org/citations/20976737 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/20976737 | http://www.w3.org/2000/01/rdf-schema#comment | "Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high-resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations."xsd:string |
http://purl.uniprot.org/citations/20976737 | http://purl.org/dc/terms/identifier | "doi:10.1002/mds.23106"xsd:string |
http://purl.uniprot.org/citations/20976737 | http://purl.uniprot.org/core/author | "Mizuno Y."xsd:string |
http://purl.uniprot.org/citations/20976737 | http://purl.uniprot.org/core/author | "Hattori N."xsd:string |
http://purl.uniprot.org/citations/20976737 | http://purl.uniprot.org/core/author | "Funayama M."xsd:string |
http://purl.uniprot.org/citations/20976737 | http://purl.uniprot.org/core/author | "Yoshino H."xsd:string |
http://purl.uniprot.org/citations/20976737 | http://purl.uniprot.org/core/author | "Tomiyama H."xsd:string |
http://purl.uniprot.org/citations/20976737 | http://purl.uniprot.org/core/author | "Wu R.M."xsd:string |
http://purl.uniprot.org/citations/20976737 | http://purl.uniprot.org/core/author | "Ogaki K."xsd:string |
http://purl.uniprot.org/citations/20976737 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
http://purl.uniprot.org/citations/20976737 | http://purl.uniprot.org/core/name | "Mov Disord"xsd:string |
http://purl.uniprot.org/citations/20976737 | http://purl.uniprot.org/core/pages | "2434-2437"xsd:string |
http://purl.uniprot.org/citations/20976737 | http://purl.uniprot.org/core/title | "Rapid screening of ATP13A2 variant with high-resolution melting analysis."xsd:string |
http://purl.uniprot.org/citations/20976737 | http://purl.uniprot.org/core/volume | "25"xsd:string |
http://purl.uniprot.org/citations/20976737 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20976737 |
http://purl.uniprot.org/citations/20976737 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/20976737 |
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