A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.

Ali Mollataheri,Marzieh Mojbafan,Rozita Hosseini,Nakisa Houman, Mohammad Mousavi,Hasan Otoukesh

Nephron（2023）

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摘要

This is the first report to characterize mutations in the CLCN5 gene in Iranian patients with Dent's disease and expands the spectrum of CLCN5 mutations by reporting two novel mutations, c.1241_1242dupAA and c.805-2A>G.

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关键词

CLCN5 gene,Dent’s disease,Iran,Mutation,Proteinuria

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