{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T05:03:50Z","timestamp":1773291830570,"version":"3.50.1"},"reference-count":21,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,7]],"date-time":"2015-12-07T00:00:00Z","timestamp":1449446400000},"content-version":"vor","delay-in-days":4358,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[2004,1]]},"DOI":"10.1111\/j.1523-1755.2004.00388.x","type":"journal-article","created":{"date-parts":[[2003,12,16]],"date-time":"2003-12-16T16:24:21Z","timestamp":1071591861000},"page":"25-29","source":"Crossref","is-referenced-by-count":52,"title":["A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies"],"prefix":"10.1016","volume":"65","author":[{"given":"Eliecer","family":"Coto","sequence":"first","affiliation":[]},{"given":"Julian","family":"Rodriguez","sequence":"additional","affiliation":[]},{"given":"Nikola","family":"Jeck","sequence":"additional","affiliation":[]},{"given":"Victoria","family":"Alvarez","sequence":"additional","affiliation":[]},{"given":"Rosario","family":"Stone","sequence":"additional","affiliation":[]},{"given":"Cesar","family":"Loris","sequence":"additional","affiliation":[]},{"given":"Luis M.","family":"Rodriguez","sequence":"additional","affiliation":[]},{"given":"Michel","family":"Fischbach","sequence":"additional","affiliation":[]},{"given":"Hannsj\u00f6rg W.","family":"Seyberth","sequence":"additional","affiliation":[]},{"given":"Fernando","family":"Santos","sequence":"additional","affiliation":[]}],"member":"78","reference":[{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0010","first-page":"221","article-title":"A new familial disorder characterized by hypokalemia and hypomagnesemia","volume":"79","author":"Gitelman","year":"1966","journal-title":"Trans Assoc Am Physicians"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0015","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ng0196-24","article-title":"Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter","volume":"12","author":"Simon","year":"1996","journal-title":"Nat Genet"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0020","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1046\/j.1523-1755.1998.00070.x","article-title":"Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain","volume":"54","author":"Lemmink","year":"1998","journal-title":"Kidney Int"},{"issue":"5","key":"10.1111\/j.1523-1755.2004.00388.x_bb0025","article-title":"Genetic studies of the Roma (Gypsies): A review","volume":"2","author":"Kalaydjieva","year":"2001","journal-title":"BMC Med Genet"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0030","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/ki.1995.68","article-title":"Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Gitelman's syndrome)","volume":"47","author":"Bettinelli","year":"1995","journal-title":"Kidney Int"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0035","first-page":"1019","article-title":"Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome","volume":"59","author":"Mastroianni","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0040","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0002-9343(01)01086-5","article-title":"Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies","volume":"112","author":"Peters","year":"2002","journal-title":"Am J Med"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0045","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1046\/j.1523-1755.2003.00730.x","article-title":"A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes","volume":"63","author":"Zelikovic","year":"2003","journal-title":"Kidney Int"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0050","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1203\/00006450-200012000-00009","article-title":"Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype","volume":"48","author":"Jeck","year":"2000","journal-title":"Pediatr Res"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0055","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng1097-171","article-title":"Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III","volume":"17","author":"Simon","year":"1997","journal-title":"Nat Genet"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0060","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1681\/ASN.V1181449","article-title":"Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome","volume":"11","author":"Konrad","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0065","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1681\/ASN.V1271327","article-title":"Intrarenal and cellular localization of CLC-K2 protein in the mouse kidney","volume":"12","author":"Kobayashi","year":"2001","journal-title":"J Am Soc Nephrol"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0070","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/S0022-3476(85)80395-4","article-title":"Congenital hypokalemia with hypercalciuria in preterm infants: A hyperprostaglandinuric tubular syndrome different from Bartter syndrome","volume":"107","author":"Seyberth","year":"1985","journal-title":"J Pediatr"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0075","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1097\/01.ASN.0000049161.60740.CE","article-title":"Recent advances in molecular genetics of hereditary magnesium-losing disorders","volume":"14","author":"Konrad","year":"2003","journal-title":"J Am Soc Nephrol"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0080","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF00210743","article-title":"The mutational spectrum of single base-pair substitutions in mRNA splice site junctions of human genes: causes and consequences","volume":"90","author":"Krawczak","year":"1992","journal-title":"Hum Genet"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0085","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1046\/j.1523-1755.2001.059002710.x","article-title":"Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life","volume":"59","author":"Cruz","year":"2001","journal-title":"Kidney Int"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0090","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/S0022-3476(05)80594-3","article-title":"Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes","volume":"120","author":"Bettinelli","year":"1992","journal-title":"J Pediatr"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0095","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1136\/adc.81.6.508","article-title":"Dose related growth response to indometacin in Gitelman syndrome","volume":"81","author":"Liaw","year":"1999","journal-title":"Arch Dis Child"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0100","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1055\/s-2001-15417","article-title":"Clinical, biochemical and molecular genetic data in five children with Gitelman's syndrome","volume":"33","author":"Schmidt","year":"2001","journal-title":"Horm Metab Res"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0105","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1203\/00006450-199908000-00017","article-title":"Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome?","volume":"46","author":"Bettinelli","year":"1999","journal-title":"Pediatr Res"},{"key":"10.1111\/j.1523-1755.2004.00388.x_bb0110","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1016\/S0272-6386(99)70233-7","article-title":"Recombinant human growth hormone and Gitelman's syndrome","volume":"33","author":"Ko","year":"1999","journal-title":"Am J Kidney Dis"}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815496735?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815496735?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,13]],"date-time":"2021-06-13T14:55:21Z","timestamp":1623596121000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253815496735"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,1]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,1]]}},"alternative-id":["S0085253815496735"],"URL":"https:\/\/doi.org\/10.1111\/j.1523-1755.2004.00388.x","relation":{},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[2004,1]]}}}