Introduction: Liddle syndrome (LS), an autosomal dominant and inherited monogenic hypertension syndrome caused by pathogenic mutations in the epithelial sodium channel (ENaC) genes SCNN1A, SCNN1B, and

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A novel SCNN1A mutation

遗传病基因突变

Liddle综合征

Liddle Symsyndrome is an autosomal dominant disorder characterized clinically by low-renin hypertension, renal potassium loss and metabolic alkalosis. In the present study, a novel pathogenic mutation

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Whole exon sequencing data from a patient with liddle syndrome

Liddle综合征

基因突变分析

This is the data of whole exon sequencing of a newly-identified Liddle syndrome patient with a frameshift mutation in SCNN1B gene.

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