Article
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
Nephron. Physiology - 1 Jan 2009
Wu Fiona, Reed Anita A C, Williams Sian E, Loh Nellie Y, Lippiat Jonathan D, Christie Paul T, Large Oliver, Bettinelli Alberto, Dillon Michael J, Goldraich Noemia P, Hoppe Bernd, Lhotta Karl, Loirat Chantal, Malik Rayaz, Morel Delphine, Kotanko Peter, Roussel Bernard, Rubinger Dvora, Schrander-Stumpel Connie, Serdaroglu Erkin, Nesbit M Andrew, Ashcroft Frances, Thakker Rajesh V
Abstract excerpt
BACKGROUND/AIMS: Dent's disease is caused by mutations in the chloride/proton antiporter, CLC-5, or oculo-cerebro-renal-syndrome-of-Lowe (OCRL1) genes. METHODS: Eighteen probands with Dent's disease were investigated for mutations in CLC-5 and two of its interacting proteins, CLC-4 and cofilin. Wild-type and mutant CLC-5s were assessed in kidney cells. Urinary calcium excretion following an oral calcium challenge...
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