{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T16:47:32Z","timestamp":1773420452935,"version":"3.50.1"},"reference-count":30,"publisher":"Public Library of Science (PLoS)","issue":"9","license":[{"start":{"date-parts":[[2013,9,18]],"date-time":"2013-09-18T00:00:00Z","timestamp":1379462400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0074673","type":"journal-article","created":{"date-parts":[[2013,9,18]],"date-time":"2013-09-18T17:16:51Z","timestamp":1379524611000},"page":"e74673","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":16,"title":["Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm"],"prefix":"10.1371","volume":"8","author":[{"given":"Alejandro","family":"Garc\u00eda Casta\u00f1o","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustavo","family":"P\u00e9rez de Nanclares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leire","family":"Madariaga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mireia","family":"Aguirre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alvaro","family":"Madrid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inmaculada","family":"Nadal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mercedes","family":"Navarro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Lucas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Fijo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar","family":"Espino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zilac","family":"Espitaletta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Casta\u00f1o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gema","family":"Ariceta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"RenalTube Group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2013,9,18]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/0002-9343(62)90214-0","article-title":"Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome","volume":"33","author":"FC Bartter","year":"1962","journal-title":"Am J Med"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/s004670050461","article-title":"Bartter and related syndromes: the puzzle is almost solved","volume":"12","author":"J Rodr\u00edguez Soriano","year":"1998","journal-title":"Pediatr Nephrol"},{"key":"ref3","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":"HW Seyberth","year":"1985","journal-title":"J Pediatr"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1007\/s004310050688","article-title":"Bartter syndrome and its neonatal variant","volume":"156","author":"W Proesmans","year":"1997","journal-title":"Eur J Pediatr"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1542\/peds.103.3.663","article-title":"Bartter\u2019s syndrome comes of age","volume":"103","author":"J Rodr\u00edguez Soriano","year":"1999","journal-title":"Pediatrics"},{"key":"ref6","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":"N Jeck","year":"2000","journal-title":"Pediatr Res"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1038\/ng0696-183","article-title":"Bartter\u2019s syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2","volume":"13","author":"DB Simon","year":"1996","journal-title":"Nat Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/ng1096-152","article-title":"Genetic heterogeneity of Bartter\u2019s syndrome revealed by mutations in the K+ channel, ROMK","volume":"14","author":"DB Simon","year":"1996","journal-title":"Nat Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng1097-171","article-title":"Mutations in the chloride channel gene <italic>CLCNKB<\/italic> cause Bartter\u2019syndrome type III","volume":"17","author":"DB Simon","year":"1997","journal-title":"Nat Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng752","article-title":"Mutation of <italic>BSND<\/italic> causes Bartter syndrome with sensorineural deafness and kidney failure","volume":"29","author":"R Birkenh\u00e4ger","year":"2001","journal-title":"Nat Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"2259","DOI":"10.1097\/01.ASN.0000025781.16723.68","article-title":"Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome","volume":"13","author":"R Vargas-Poussou","year":"2002","journal-title":"J Am Soc Nephrol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1056\/NEJMoa032843","article-title":"Salt wasting and deafness resulting from mutations in two chloride channels","volume":"350","author":"KP Schlingmann","year":"2004","journal-title":"N Engl J Med"},{"key":"ref13","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":"M Konrad","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1038\/ki.1995.439","article-title":"Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney","volume":"48","author":"Y Takeuchi","year":"1995","journal-title":"Kidney Int"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"F616","DOI":"10.1152\/ajprenal.2000.279.4.F616","article-title":"Divalent cation transport by the distal nephron: insights from Bartter\u00b4s and Gitelman\u2019s syndromes","volume":"279","author":"DH Ellison","year":"2000","journal-title":"Am J Physiol Renal Physiol"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/415287a","article-title":"X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity","volume":"415","author":"R Dutzler","year":"2002","journal-title":"Nature"},{"key":"ref17","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, <italic>CLCNKB<\/italic>, as a cause of Gitelman and Bartter syndromes","volume":"63","author":"I Zelikovic","year":"2003","journal-title":"Kidney Int"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1007\/s00467-005-1867-z","article-title":"A founder mutation in the <italic>CLCNKB<\/italic> gene causes Bartter syndrome type III in Spain","volume":"20","author":"J Rodr\u00edguez Soriano","year":"2005","journal-title":"Pediatr Nephrol"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1038\/ki.1981.199","article-title":"Renal handling of water and sodium in infancy and childhood: a study using clearance methods during hypotonic saline diuresis","volume":"20","author":"J Rodr\u00edguez Soriano","year":"1981","journal-title":"Kidney Int"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1046\/j.1523-1755.2003.00163.x","article-title":"Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis","volume":"64","author":"S Fukuyama","year":"2003","journal-title":"Kidney Int"},{"key":"ref21","first-page":"3151","article-title":"A novel splicing mutation in <italic>CLCNKB<\/italic> in a Chinese patient with Bartter syndrome type III","volume":"123","author":"Y Dong","year":"2010","journal-title":"Chin Med J (Engl)"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/j.1399-0004.2009.01288.x","article-title":"Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome","volume":"77","author":"Y Yu","year":"2010","journal-title":"Clin Genet"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1681\/ASN.2010090907","article-title":"Spectrum of mutations in Gitelman Syndrome","volume":"22","author":"R Vargas-Poussou","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"24527","DOI":"10.1074\/jbc.M001987200","article-title":"Functional and structural analysis of ClC-Kb channel involved in renal disease","volume":"275","author":"S Waldegger","year":"2000","journal-title":"J Biol Chem"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1203\/PDR.0b013e318123fb90","article-title":"Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR","volume":"62","author":"K Nozu","year":"2007","journal-title":"Pediatr Res"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1085\/jgp.114.1.1","article-title":"Elimination of the slow gating of ClC-0 chloride channel by a point mutation","volume":"114","author":"YW Lin","year":"1999","journal-title":"J Gen Physiol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1085\/jgp.20028741","article-title":"Involvement of helices at the dimer interface in ClC-1 common gating","volume":"121","author":"M Duffield","year":"2003","journal-title":"J Gen Physiol"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1111\/j.1469-7793.2001.00745.x","article-title":"Drastic reduction of the slow gate of human muscle chloride channel (ClC-1) by mutation C277S","volume":"534","author":"A Accardi","year":"2001","journal-title":"J Physiol"},{"key":"ref29","first-page":"221","article-title":"A new familial disorder characterized by hypokalemia and hypomagnesemia","volume":"79","author":"HJ Gitelman","year":"1966","journal-title":"Trans Assoc Am Physicians"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"3126","DOI":"10.2337\/diabetes.54.11.3126","article-title":"Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5","volume":"54","author":"C Bellann\u00e9-Chantelot","year":"2005","journal-title":"Diabetes"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0074673","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,6]],"date-time":"2022-03-06T06:36:12Z","timestamp":1646548572000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0074673"}},"subtitle":[],"editor":[{"given":"Osman","family":"El-Maarri","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2013,9,18]]},"references-count":30,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2013,9,18]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0074673","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,9,18]]}}}