| http://purl.uniprot.org/citations/15133511 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15133511 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15133511 | http://www.w3.org/2000/01/rdf-schema#comment | "Familial tumoral calcinosis (FTC; OMIM 211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Using linkage analysis, we mapped the gene underlying FTC to 2q24-q31. This region includes the gene GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation. Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1358"xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1358"xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Friedman V."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Friedman V."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Sprecher E."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Sprecher E."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Richard G."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Richard G."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Bergman R."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Bergman R."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Indelman M."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Indelman M."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Petronius D."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Petronius D."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Ratajczak P."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Ratajczak P."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Topaz O."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Topaz O."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Behar D."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Behar D."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Khamaysi Z."xsd:string |
| http://purl.uniprot.org/citations/15133511 | http://purl.uniprot.org/core/author | "Khamaysi Z."xsd:string |