Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent’sJapan disease

Author:

Igarashi Takashi,Günther Willy,Sekine Takashi,Inatomi Jun,Shiraga Hiroshi,Takahashi Shouri,Suzuki Junzou,Tsuru Noboru,Yanagihara Toshio,Shimazu Mitsunobu,Jentsch Thomas J.,Thakker Rajesh V.

Publisher

Elsevier BV

Subject

Nephrology

Reference26 articles.

1. Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance;Wrong;Quart J Med,1994

2. Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22;Pook;Hum Mol Genet,1993

3. Characterization of renal chloride channel. CLCN5, mutations in hypercalciuric nephrocalcinosis (kidney stones) disorders;Lloyd;Hum Mol Genet,1997

4. X-linked recessive nephrolithiasis with renal failure;Frymoyer;N Engl J Med,1991

5. Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies;Scheinman;J Clin Invest,1993

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