{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T03:49:25Z","timestamp":1773460165727,"version":"3.50.1"},"reference-count":10,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Kidney Blood Press Res"],"published-print":{"date-parts":[[2002]]},"abstract":"<i>Background:<\/i> Gitelman\u2019s syndrome (GS) is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria and these phenotypic features have been shown to be attributable to mutations in the gene encoding the thiazide-sensitive Na\/Cl cotransporter <i>(NCCT). <\/i>Until now, 55 different mutations have been reported and most of the families affected with GS exhibit autosomal recessive inheritance. <i>Methods:<\/i> All 26 exons of the human <i>NCCT\u00a0 <\/i>gene were investigated in 2 German NCCT-deficient patients and their families. Mutation detection was performed by either direct automated sequencing of polymerase chain reaction (PCR)-amplified DNA products or by sequence analysis of cloned PCR products. <i>Results:<\/i> In a 47-year-old German GS female a novel non-conservative missense mutation (S314F) and a complex deletion\/insertion in the <i>NCCT<\/i> gene were found to be associated with the disorder. A further novel non-conservative substitution (S402F) together with a frequently observed R209W exchange were found in a 19-year-old German GS female. <i>Conclusions:<\/i> The observation of a compound heterozygote state in both females affected and the absence of a GS phenotype in their relatives carrying a single mutant allele is consistent with an autosomal recessive pattern of inheritance.<\/jats:p>","DOI":"10.1159\/000068695","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T21:05:40Z","timestamp":1050440740000},"page":"354-362","source":"Crossref","is-referenced-by-count":43,"title":["Novel <i>NCCT <\/i>Gene Mutations as a Cause of Gitelman\u2019s Syndrome and a Systematic Review of Mutant and Polymorphic <i>NCCT <\/i>Alleles"],"prefix":"10.1159","volume":"25","author":[{"given":"Annette","family":"Reissinger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Ludwig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boris","family":"Utsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astrid","family":"Pr\u00f6mse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Baulmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burkhard","family":"Weisser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Vetter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herbert J.","family":"Kramer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dirk","family":"Bokemeyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2003,2,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(62)90214-0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-24"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/S0955-0674(98)80057-4"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/ng752"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s004670050129"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.81.12.4496"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.1998.00070.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-15417"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0388"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2001.059002710.x"}],"container-title":["Kidney and Blood Pressure Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/68695","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/68695","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:37:07Z","timestamp":1745465827000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000068695"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002]]},"references-count":10,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2002,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000068695","archive":["Portico"],"relation":{},"ISSN":["1420-4096","1423-0143"],"issn-type":[{"value":"1420-4096","type":"print"},{"value":"1423-0143","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002]]}}}