{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:17:31Z","timestamp":1789179451345,"version":"build-2803163510"},"reference-count":33,"publisher":"Charles University in Prague, Karolinum Press","issue":"2","license":[{"start":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T00:00:00Z","timestamp":1726099200000},"content-version":"vor","delay-in-days":5003,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T00:00:00Z","timestamp":1726099200000},"content-version":"tdm","delay-in-days":5003,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001823","name":"Ministerstvo \u0160kolstv\u00ed, Ml\u00e1de\u017ee a T\u011blov\u00fdchovy","doi-asserted-by":"publisher","award":["MSM 0021620806"],"award-info":[{"award-number":["MSM 0021620806"]}],"id":[{"id":"10.13039\/501100001823","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fol. Biol."],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>\n                    Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes:\n                    <jats:italic>SLC12A3<\/jats:italic>\n                    and\n                    <jats:italic>CLCNKB<\/jats:italic>\n                    . Clinical symptoms of these two diseases may overlap. Patients with clinical symptoms of antenatal form of Bartter syndrome were screened for mutations in two different genes:\n                    <jats:italic>KCNJ1<\/jats:italic>\n                    and\n                    <jats:italic>SLC12A1<\/jats:italic>\n                    . The aim was to establish genetic mutation screening of Bartter\/Gitelman syndrome and to confirm the proposed diagnosis. We have identified seven different causative mutations in the\n                    <jats:italic>SLC12A3<\/jats:italic>\n                    gene, four in the\n                    <jats:italic>CLCNKB<\/jats:italic>\n                    gene, two in the\n                    <jats:italic>SLC12A1<\/jats:italic>\n                    gene, and none in the\n                    <jats:italic>KCNJ1<\/jats:italic>\n                    gene. Nine of these mutations are novel. In one case, genetic analysis led to re-evaluation of diagnosis between the Gitelman and classic form of Bartter syndrome.\n                  <\/jats:p>","DOI":"10.14712\/fb2011057020065","type":"journal-article","created":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T15:54:13Z","timestamp":1726156453000},"page":"65-73","source":"Crossref","is-referenced-by-count":12,"title":["DNA Analysis of Renal Electrolyte Transporter Genes Among Patients Suffering from Bartter and Gitelman Syndromes \u2013 Summary of Mutation Screening"],"prefix":"10.14712","volume":"57","author":[{"given":"Mark\u00e9ta","family":"Urbanov\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Reiterov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"\u0160tekrov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Ln\u011bni\u010dka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Ry\u0161av\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5727","published-online":{"date-parts":[[2024,9,12]]},"reference":[{"key":"fb2011057020065_1","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng752","volume":"29","author":"Birkenhager","year":"2001","journal-title":"Nat. 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