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Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.

2004Journal article Restricted access
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dc.contributor.authorCalado, J
dc.contributor.authorSoto, K
dc.contributor.authorClemente, C
dc.contributor.authorCorreia, P
dc.contributor.authorRueff, J
dc.date.accessioned2012-08-30T10:29:42Z
dc.date.available2012-08-30T10:29:42Z
dc.date.issued2004
dc.description.abstractFamilial 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.citationHum Genet. 2004 Feb;114(3):314-6por
dc.identifier.issn0340-6717
dc.identifier.urihttp://hdl.handle.net/10400.10/684
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherSpringerpor
dc.subjectGlicosúria renalpor
dc.subjectRenal glycosuriapor
dc.subjectHeterozygotepor
dc.titleNovel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.por
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceBerlinpor
oaire.citation.endPage316por
oaire.citation.startPage314por
oaire.citation.titleHuman Geneticspor
oaire.citation.volume114por
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor

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