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A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia.

08:00 EDT 12th April 2019 | BioPortfolio

Summary of "A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia."

Liddle syndrome (LS) is an autosomal dominant disorder caused by single-gene mutations of the epithelial sodium channel (ENaC). It is characterized by early onset hypertension, spontaneous hypokalemia and low plasma renin and aldosterone concentrations. In this study, we reported an LS pedigree with normokalemia resulting from a novel SCNN1G frameshift mutation.

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This article was published in the following journal.

Name: American journal of hypertension
ISSN: 1941-7225
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