Nephrolithiasis (kidney stones)

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2008

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  • Nephrolithiasis may be caused by the CLCN5 voltage-gated chloride channel and by Dent's disease, which maps to the same cytological position and causes a similar disorder
  • Kidney stones may afflict about 10% of Western populations with substantial variations according to genetic factors, diet, and climatic conditions
  • A nephrocystin-interacting protein may be involved in Leber congenital amaurosis and Joubert syndrome. kidney diseases, Dent's disease; Ombra MN et al 2001 Am J Hum Genet 68:1119; Gianfrancesco F et al 2003 Am J Hum Genet 72:1479; Joubert syndrome, amaurosis
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