| http://purl.uniprot.org/citations/22658918 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22658918 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22658918 | http://www.w3.org/2000/01/rdf-schema#comment | "To determine the frequency of mutations responsible for Gaucher's disease, we systematically sequenced the GBA1 gene as part of a molecular characterization of 73 adult patients in the United Kingdom. Five hitherto unknown pathogenic variants were identified, one of which is a splice site change; the others are novel missense mutations. Given that GBA1 gene mutations are an important risk factor for the development of Parkinson's disease, we contend that a complete analysis and molecular characterization of both the known and novel GBA1 variants will be needed before the biochemical processes underlying this genetic association can be fully understood."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2012.05.006"xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2012.05.006"xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Mehta A."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Mehta A."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Hughes D."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Hughes D."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Cox T."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Cox T."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Duran R."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Duran R."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Deegan P."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Deegan P."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "McNeill A."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "McNeill A."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Schapira A.H."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/author | "Schapira A.H."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/name | "Mol. Genet. Metab."xsd:string |
| http://purl.uniprot.org/citations/22658918 | http://purl.uniprot.org/core/name | "Mol. Genet. Metab."xsd:string |