| http://purl.uniprot.org/citations/9585600 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9585600 | http://www.w3.org/2000/01/rdf-schema#comment | "Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. This disorder typically presents as a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this variant is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. We have analyzed 15 probands belonging to 13 families and have performed SSCP analysis of the coding sequence and the exon-intron boundaries of the NKCC2 gene; and we report 14 novel mutations in patients with antenatal Bartter syndrome, as well as the identification of three isoforms of human NKCC2 that arise from alternative splicing."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.org/dc/terms/identifier | "doi:10.1086/301872"xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Konrad M."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "van den Heuvel L.P."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Kelly L."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Knoers N.V."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Hebert S.C."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Hildebrandt F."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Lemmink H.H."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Seyberth H.W."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Vargas-Poussou R."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Guay-Woodford L.M."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Feldmann D."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Vollmer M."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Deschenes G."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Brandis M."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Karolyi L."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/author | "Tebourbi L."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/name | "Am J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/pages | "1332-1340"xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/title | "Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome."xsd:string |
| http://purl.uniprot.org/citations/9585600 | http://purl.uniprot.org/core/volume | "62"xsd:string |