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A novel homozygous mutation (p.Arg399Pro) at the extracellular domain of SLC12A3 was found and correlated with the severe clinical manifestations.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.874","type":"journal-article","created":{"date-parts":[[2017,3,17]],"date-time":"2017-03-17T01:36:53Z","timestamp":1489714613000},"page":"578-586","source":"Crossref","is-referenced-by-count":5,"title":["Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review"],"prefix":"10.1002","volume":"5","author":[{"given":"Ming\u2010Feng","family":"Xia","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism Zhongshan Hospital Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Bian","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Zhongshan Hospital Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Nephrology Zhongshan Hospital Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui\u2010Juan","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pathology School of Basic Medical Sciences Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi\u2010Gang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology School of Basic Medical Sciences Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi\u2010Qiang","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Zhongshan Hospital Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1864-7796","authenticated-orcid":false,"given":"Xin","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Zhongshan Hospital Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,17]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"92","article-title":"A new familial disorder characterized by hypokalemia and hypomagnesemia","volume":"79","author":"Gitelman H.","year":"1966","journal-title":"Trans. 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