Original paper
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome
Volume: 28, Issue: 11, Pages: 3291 - 3299
Published: Jul 14, 2017
Abstract
Liddle syndrome is an autosomal dominant form of hypokalemic hypertension due to mutations in the β - or γ -subunit of the epithelial sodium channel (ENaC). Here, we describe a family with Liddle syndrome due to a mutation in α ENaC. The proband was referred because of resistant hypokalemic hypertension, suppressed renin and aldosterone, and no mutations in the genes encoding β - or γ ENaC. Exome sequencing revealed a heterozygous,...
Paper Details
Title
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome
Published Date
Jul 14, 2017
Volume
28
Issue
11
Pages
3291 - 3299
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Notes
History