| http://purl.uniprot.org/citations/18997784 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18997784 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18997784 | http://www.w3.org/2000/01/rdf-schema#comment | "Gerodermia osteodysplastica is an autosomal recessive disorder characterized by wrinkly skin and osteoporosis. Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts. The protein localizes to the Golgi apparatus and interacts with Rab6, identifying SCYL1BP1 as a golgin. These results associate abnormalities of the secretory pathway with age-related changes in connective tissues."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.252"xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.252"xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Zhang X."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Zhang X."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Zhang H."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Zhang H."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Barr F.A."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Barr F.A."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Mueller D."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Mueller D."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Nuernberg P."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Nuernberg P."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Mundlos S."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Mundlos S."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Rajab A."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Rajab A."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Steinmann B."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Steinmann B."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Wieacker P."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Wieacker P."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Brancati F."xsd:string |
| http://purl.uniprot.org/citations/18997784 | http://purl.uniprot.org/core/author | "Brancati F."xsd:string |