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See Latest ArticlesTruncating Mutations in the Chloride/Proton ClC-5 Antiporter Gene in Seven Jewish Israeli Families with Dent's 1 Disease
Nephron: Clinical Practice, 06/17/09
Dinour D et al. - The authors identified six different truncating CLCN5 mutations that were segregated with the disease in 7 families: three nonsense mutations (Arg28stop, Arg467stop and Arg637stop), one deletion mutation (505delA) and two novel mutations, consisted of one deletion mutation (1493delG) and one insertion mutation (409insC). All the mutations cause premature termination of protein translation and result in a non-functional truncated protein. The clinical characteristics of patients with different mutations were, in general, similar.
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