Publicação
Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.
| dc.contributor.author | Calado, J | |
| dc.contributor.author | Soto, K | |
| dc.contributor.author | Clemente, C | |
| dc.contributor.author | Correia, P | |
| dc.contributor.author | Rueff, J | |
| dc.date.accessioned | 2012-08-30T10:29:42Z | |
| dc.date.available | 2012-08-30T10:29:42Z | |
| dc.date.issued | 2004 | |
| dc.description.abstract | 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. | por |
| dc.identifier.citation | Hum Genet. 2004 Feb;114(3):314-6 | por |
| dc.identifier.issn | 0340-6717 | |
| dc.identifier.uri | http://hdl.handle.net/10400.10/684 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Springer | por |
| dc.subject | Glicosúria renal | por |
| dc.subject | Renal glycosuria | por |
| dc.subject | Heterozygote | por |
| dc.title | Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Berlin | por |
| oaire.citation.endPage | 316 | por |
| oaire.citation.startPage | 314 | por |
| oaire.citation.title | Human Genetics | por |
| oaire.citation.volume | 114 | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | article | por |
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