| http://purl.uniprot.org/citations/27066548 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27066548 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27066548 | http://www.w3.org/2000/01/rdf-schema#comment | "Rab proteins are small molecular weight guanosine triphosphatases involved in the regulation of vesicular trafficking.(1) Three of 4 X-linked RAB genes are specific to the brain, including RAB39B. Recently, Wilson et al.(2) reported that mutations in RAB39B cause X-linked intellectual disability (ID) and pathologically confirmed Parkinson disease (PD). They identified a ∼45-kb deletion resulting in the complete loss of RAB39B in an Australian kindred and a missense mutation in a large Wisconsin kindred. Here, we report an additional affected man with typical PD and mild mental retardation harboring a new truncating mutation in RAB39B."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.org/dc/terms/identifier | "doi:10.1212/nxg.0000000000000009"xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.org/dc/terms/identifier | "doi:10.1212/nxg.0000000000000009"xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Nicolas A."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Nicolas A."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Brice A."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Brice A."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Bras J."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Bras J."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Guerreiro R."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Guerreiro R."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Wood N.W."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Wood N.W."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Condroyer C."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Condroyer C."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Lesage S."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Lesage S."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Federoff M."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Federoff M."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Singleton A."xsd:string |
| http://purl.uniprot.org/citations/27066548 | http://purl.uniprot.org/core/author | "Singleton A."xsd:string |