http://purl.uniprot.org/citations/17660817 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/17660817 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/17660817 | http://www.w3.org/2000/01/rdf-schema#comment | "Multiple sclerosis is a demyelinating neurodegenerative disease with a strong genetic component. Previous genetic risk studies have failed to identify consistently linked regions or genes outside of the major histocompatibility complex on chromosome 6p. We describe allelic association of a polymorphism in the gene encoding the interleukin 7 receptor alpha chain (IL7R) as a significant risk factor for multiple sclerosis in four independent family-based or case-control data sets (overall P = 2.9 x 10(-7)). Further, the likely causal SNP, rs6897932, located within the alternatively spliced exon 6 of IL7R, has a functional effect on gene expression. The SNP influences the amount of soluble and membrane-bound isoforms of the protein by putatively disrupting an exonic splicing silencer."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng2103"xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng2103"xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Goris A."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Goris A."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Gregory S.G."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Gregory S.G."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Schmidt S."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Schmidt S."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Ban M."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Ban M."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Haines J.L."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Haines J.L."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Pericak-Vance M.A."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Pericak-Vance M.A."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Garcia-Blanco M.A."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Garcia-Blanco M.A."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Hart J."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Hart J."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Seth P."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Seth P."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Barcellos L.F."xsd:string |
http://purl.uniprot.org/citations/17660817 | http://purl.uniprot.org/core/author | "Barcellos L.F."xsd:string |