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. 2013 Nov 19;1(6):e00160. doi: 10.1002/phy2.160

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© 2013 The Authors. Physiological Reports published by Wiley Periodicals, Inc. on behalf of the American Physiological Society and The Physiological Society

Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.

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Clinical and molecular genetic analysis of Bartter's syndrome patients. Hyperplasia of juxtaglomerular apparatus is demonstrated on renal histology in (A) sibling 1 and (B) sibling 2. (C) Renal USS demonstrates nephrocalcinosis in sibling 3. (D) KNCJ1 sequencing identifies compound heterozygous mutations in all three affected p.S219R/p.L220F segregating from each parent.