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Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2005

Ciechanowicz Andrzej, Dolezel Zdenek, Placha Grzegorz, Starha Jiri, Góra Jarosław, Gaciong Zbigniew, Brodkiewicz Andrzej, Adler Grazyna

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PMID: 15856328
DOI: 10.1007/s00467-004-1793-5

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A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.Semantic proximity Read ↗

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Liddle Syndrome: Review of the Literature and Description of a New Case.Semantic proximity Read ↗

A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle SyndromeSemantic proximity Read ↗

A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system.Semantic proximity Read ↗

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.Semantic proximity Read ↗

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