CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease
Author:
Publisher
Oxford University Press (OUP)
Subject
Transplantation,Nephrology
Link
http://academic.oup.com/ndt/article-pdf/20/7/1476/5394631/gfh799.pdf
Reference13 articles.
1. 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: 598–606
2. Thakker RV. Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. Kidney Int2000; 57: 787–793
3. 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: 911–916
4. 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: 811–818
5. Hoopes RR Jr, Raja KM, Koich A et al. Evidence for genetic heterogeneity in Dent's disease. Kidney Int2004; 65: 1615–1620
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