{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T09:22:49Z","timestamp":1759483369478},"reference-count":13,"publisher":"Oxford University Press (OUP)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,7,1]]},"DOI":"10.1093\/ndt\/gfh799","type":"journal-article","created":{"date-parts":[[2005,4,7]],"date-time":"2005-04-07T00:13:00Z","timestamp":1112832780000},"page":"1476-1479","source":"Crossref","is-referenced-by-count":33,"title":["CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease"],"prefix":"10.1093","volume":"20","author":[{"given":"Nesrin","family":"Besbas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatih","family":"Ozaltin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikola","family":"Jeck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannsj\u00f6rg","family":"Seyberth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Ludwig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2005,4,5]]},"reference":[{"key":"key\n\t\t\t\t20171011010025_BIB1","doi-asserted-by":"crossref","unstructured":"Fisher SE, Bakel IV, Lloyd SE, Pearce SHS, Thakker RV, Craig IW. Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics1995; 29: 598\u2013606","DOI":"10.1006\/geno.1995.9960"},{"key":"key\n\t\t\t\t20171011010025_BIB2","doi-asserted-by":"crossref","unstructured":"Thakker RV. Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. Kidney Int2000; 57: 787\u2013793","DOI":"10.1046\/j.1523-1755.2000.00916.x"},{"key":"key\n\t\t\t\t20171011010025_BIB3","doi-asserted-by":"crossref","unstructured":"Akuta N, Lloyd SE, Igarashi T et al. Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. Kidney Int1997; 52: 911\u2013916","DOI":"10.1038\/ki.1997.412"},{"key":"key\n\t\t\t\t20171011010025_BIB4","doi-asserted-by":"crossref","unstructured":"Morimoto T, Uchida S, Sakamoto H et al. Mutation in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. J Am Soc Nephrol1998; 9: 811\u2013818","DOI":"10.1681\/ASN.V95811"},{"key":"key\n\t\t\t\t20171011010025_BIB5","doi-asserted-by":"crossref","unstructured":"Hoopes RR Jr, Raja KM, Koich A et al. Evidence for genetic heterogeneity in Dent's disease. Kidney Int2004; 65: 1615\u20131620","DOI":"10.1111\/j.1523-1755.2004.00571.x"},{"key":"key\n\t\t\t\t20171011010025_BIB6","doi-asserted-by":"crossref","unstructured":"Ludwig M, Waldegger S, Nuutinen M et al. Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant. Kidney Blood Press Res2003; 26: 176\u2013184","DOI":"10.1159\/000071883"},{"key":"key\n\t\t\t\t20171011010025_BIB7","doi-asserted-by":"crossref","unstructured":"Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na\u2013K\u20132Cl cotransporter NKCC2. Nat Genet1996; 13: 183\u2013188","DOI":"10.1038\/ng0696-183"},{"key":"key\n\t\t\t\t20171011010025_BIB8","doi-asserted-by":"crossref","unstructured":"Simon DB, Karet FE, Rodriguez-Soriano J et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet1996; 14: 152\u2013156","DOI":"10.1038\/ng1096-152"},{"key":"key\n\t\t\t\t20171011010025_BIB9","doi-asserted-by":"crossref","unstructured":"Birkenh\u00e4ger R, Otto E, Sch\u00fcrmann MJ et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet2001; 29: 310\u2013314","DOI":"10.1038\/ng752"},{"key":"key\n\t\t\t\t20171011010025_BIB10","doi-asserted-by":"crossref","unstructured":"Watanabe S, Fukomoto S, Chang H et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet2002; 360: 692\u2013694","DOI":"10.1016\/S0140-6736(02)09842-2"},{"key":"key\n\t\t\t\t20171011010025_BIB11","doi-asserted-by":"crossref","unstructured":"Simon DB, Bindra RS, Mansfield TA et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet1997; 17: 171\u2013178","DOI":"10.1038\/ng1097-171"},{"key":"key\n\t\t\t\t20171011010025_BIB12","doi-asserted-by":"crossref","unstructured":"Simon DB, Nelson-Williams C, Bia MJ et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na\u2013Cl cotransporter. Nat Genet1996; 12: 24\u201330","DOI":"10.1038\/ng0196-24"},{"key":"key\n\t\t\t\t20171011010025_BIB13","doi-asserted-by":"crossref","unstructured":"Raja KA, Schurman S, D'mello RG et al. Responsiveness of hypercalciuria to thiazide in Dent's disease. J Am Soc Nephrol2002; 13: 2938\u20132944","DOI":"10.1097\/01.ASN.0000036869.82685.F6"}],"container-title":["Nephrology Dialysis Transplantation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/ndt\/article-pdf\/20\/7\/1476\/5394631\/gfh799.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T03:07:15Z","timestamp":1625713635000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/ndt\/article\/20\/7\/1476\/1911985\/CLCN5-mutation-R347X-associated-with-hypokalaemic"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4,5]]},"references-count":13,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2005,4,5]]},"published-print":{"date-parts":[[2005,7,1]]}},"URL":"https:\/\/doi.org\/10.1093\/ndt\/gfh799","relation":{},"ISSN":["1460-2385","0931-0509"],"issn-type":[{"value":"1460-2385","type":"electronic"},{"value":"0931-0509","type":"print"}],"subject":[],"published-other":{"date-parts":[[2005,7]]},"published":{"date-parts":[[2005,4,5]]}}}