| http://purl.uniprot.org/citations/18796626 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18796626 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18796626 | http://www.w3.org/2000/01/rdf-schema#comment | "Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation. In approximately 50% of patients, mutations have been described in the genes encoding the complement regulators factor H, MCP, and factor I or the activator factor B. We report here mutations in the central component of the complement cascade, C3, in association with aHUS. We describe 9 novel C3 mutations in 14 aHUS patients with a persistently low serum C3 level. We have demonstrated that 5 of these mutations are gain-of-function and 2 are inactivating. This establishes C3 as a susceptibility factor for aHUS."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2008-01-133702"xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2008-01-133702"xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Gupta R."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Gupta R."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Wong W."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Wong W."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Fischbach M."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Fischbach M."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Janssen B.J."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Janssen B.J."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Brown A.L."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Brown A.L."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Fridman W.H."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Fridman W.H."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Atkinson J.P."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Atkinson J.P."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Liszewski M.K."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Liszewski M.K."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Loirat C."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Loirat C."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Moghal N."xsd:string |
| http://purl.uniprot.org/citations/18796626 | http://purl.uniprot.org/core/author | "Moghal N."xsd:string |