Dent's disease
This is the first report to characterize mutations in the CLCN5 gene in Korean patients with Dent's disease, and expands the spectrum of CLCN5 mutations by reporting a novel mutation, E609X.
This is the first report to characterize mutations in the <span class="gene" id="15719255-8-58-63">CLCN5</span> gene in Korean patients with <span class="disease" id="15719255-8-93-107">Dent's disease</span>, and expands the spectrum of <span class="gene" id="15719255-8-137-142">CLCN5</span> mutations by reporting a novel mutation, E609X.