| http://purl.uniprot.org/citations/14614622 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14614622 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14614622 | http://www.w3.org/2000/01/rdf-schema#comment | "Familial renal glucosuria is an inherited renal tubular disorder. A homozygous nonsense mutation in the SLC5A2 gene, encoding the sodium/glucose co-transporter SGLT2, has recently been identified in an affected child of consanguineous parents. We now report novel compound heterozygous mutations in the son of non-consanguineous parents. One allele has a p.Q167fsX186 mutation, which is expected to produce a truncated protein, and the other a p.N654S mutation involving a highly conserved residue. These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00439-003-1054-x"xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00439-003-1054-x"xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/author | "Clemente C."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/author | "Clemente C."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/author | "Correia P."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/author | "Correia P."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/author | "Calado J."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/author | "Calado J."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/author | "Rueff J."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/author | "Rueff J."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/author | "Soto K."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/author | "Soto K."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/pages | "314-316"xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/pages | "314-316"xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/title | "Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/title | "Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria."xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/volume | "114"xsd:string |
| http://purl.uniprot.org/citations/14614622 | http://purl.uniprot.org/core/volume | "114"xsd:string |