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ArticleJournal of human genetics2007

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.

Elena Ramos-Trujillo et al.PubMed ↗Publisher ↗

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Full record →Abstract, authors, funding and every citing paper · PMID 17262170