Article
A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.
Nephron - 1 Jan 2023
Mollataheri Ali, Mojbafan Marzieh, Hosseini Rozita, Houman Nakisa, Mousavi Mohammad, Otoukesh Hasan
Abstract excerpt
INTRODUCTION: Dent's disease is an X-linked inherited renal tubular disorder characterized by proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and end-stage renal disease. Almost 60% of patients have causative mutations in the CLCN5 gene (Dent 1), and 15% of affected individuals have mutations in the OCRL1 gene (Dent 2). The aims of this study are to identify CLCN5 mutations in Iranian...
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