Article
Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.
Kidney international - 1 Nov 2009
Grand Teddy, Mordasini David, L'Hoste Sébastien, Pennaforte Thomas, Genete Mathieu, Biyeyeme Marie-Jeanne, Vargas-Poussou Rosa, Blanchard Anne, Teulon Jacques, Lourdel Stéphane
Abstract excerpt
Dent's disease is an X-linked recessive disorder affecting the proximal tubules and is frequently associated with mutations in CLCN5, which encodes the electrogenic chloride-proton exchanger ClC-5. To better understand the functional consequences of CLCN5 mutations in this disease, we screened four newly identified missense mutations (G179D, S203L, G212A, L469P), one new nonsense mutation (R718X), and three known...
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