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Mutational Analysis of CLC-5, Cofilin and CLC-4 in Patients with Dent's Disease
Nephron: Physiology, 06/22/09
Wu F et al. - Dent's disease is caused by mutations in the chloride/proton antiporter, CLC-5, or oculo-cerebro-renal-syndrome-of-Lowe (OCRL1) genes. Three novel CLC-5 mutations were identified, and mutations in OCRL1, CLC-4 and cofilin excluded in causing Dent's disease in this patient cohort.
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