| pubmed-article:7524315 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:7524315 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:7524315 | lifeskim:mentions | umls-concept:C0019904 | lld:lifeskim |
| pubmed-article:7524315 | lifeskim:mentions | umls-concept:C0162283 | lld:lifeskim |
| pubmed-article:7524315 | lifeskim:mentions | umls-concept:C0596142 | lld:lifeskim |
| pubmed-article:7524315 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:7524315 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:7524315 | lifeskim:mentions | umls-concept:C0213238 | lld:lifeskim |
| pubmed-article:7524315 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:7524315 | pubmed:dateCreated | 1994-10-25 | lld:pubmed |
| pubmed-article:7524315 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:abstractText | Mutations in the X-chromosomal V2 receptor gene are known to cause nephrogenic diabetes insipidus (NDI). Besides the X-linked form, an autosomal mode of inheritance has been described. Recently, mutations in the autosomal gene coding for water-channel aquaporin 2 (AQP2) of the renal collecting duct were reported in an NDI patient. In the present study, missense mutations and a single nucleotide deletion in the aquaporin 2 gene of three NDI patients from consanguineous matings are described. Expression studies in Xenopus oocytes showed that the missense AQP2 proteins are nonfunctional. These results prove that mutations in the AQP2 gene cause autosomal recessive NDI. | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:language | eng | lld:pubmed |
| pubmed-article:7524315 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:7524315 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7524315 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7524315 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:7524315 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:7524315 | pubmed:author | pubmed-author:MonnensL ALA | lld:pubmed |
| pubmed-article:7524315 | pubmed:author | pubmed-author:ProesmansWW | lld:pubmed |
| pubmed-article:7524315 | pubmed:author | pubmed-author:van OsC HCH | lld:pubmed |
| pubmed-article:7524315 | pubmed:author | pubmed-author:DeenP MPM | lld:pubmed |
| pubmed-article:7524315 | pubmed:author | pubmed-author:van OostB ABA | lld:pubmed |
| pubmed-article:7524315 | pubmed:author | pubmed-author:KnoersV VVV | lld:pubmed |
| pubmed-article:7524315 | pubmed:author | pubmed-author:van... | lld:pubmed |
| pubmed-article:7524315 | pubmed:author | pubmed-author:MallmannRR | lld:pubmed |
| pubmed-article:7524315 | pubmed:author | pubmed-author:van EssenA... | lld:pubmed |
| pubmed-article:7524315 | pubmed:author | pubmed-author:VerdijkM AMA | lld:pubmed |
| pubmed-article:7524315 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:7524315 | pubmed:volume | 55 | lld:pubmed |
| pubmed-article:7524315 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7524315 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:7524315 | pubmed:pagination | 648-52 | lld:pubmed |
| pubmed-article:7524315 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:meshHeading | pubmed-meshheading:7524315-... | lld:pubmed |
| pubmed-article:7524315 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:7524315 | pubmed:articleTitle | Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. | lld:pubmed |
| pubmed-article:7524315 | pubmed:affiliation | Department of Pediatrics, University of Nijmegen, The Netherlands. | lld:pubmed |
