http://purl.uniprot.org/citations/15680455 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15680455 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15680455 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause some forms of autosomal dominant Parkinson's disease. We measured the frequency of a novel mutation (Gly2019 ser) in familial Parkinson's disease by screening genomic DNA of patients and controls. Of 767 affected individuals from 358 multiplex families, 35 (5%) individuals were either heterozygous (34) or homozygous (one) for the mutation, and had typical clinical findings of idiopathic Parkinson's disease. Thus, our results suggest that a single LRRK2 mutation causes Parkinson's disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson's disease."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0140-6736(05)17828-3"xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0140-6736(05)17828-3"xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Jain S."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Jain S."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Nichols W.C."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Nichols W.C."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Paisan-Ruiz C."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Paisan-Ruiz C."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Hernandez D."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Hernandez D."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Singleton A."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Singleton A."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Foroud T."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Foroud T."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Rudolph A."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Rudolph A."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Halter C.A."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Halter C.A."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Pankratz N."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Pankratz N."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Michaels V.E."xsd:string |
http://purl.uniprot.org/citations/15680455 | http://purl.uniprot.org/core/author | "Michaels V.E."xsd:string |