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Article

A Novel Y152C KCNJ5 Mutation Responsible for Familial Hyperaldosteronism Type III

14 Sept 2013

Abstract excerpt

CONTEXT: Primary aldosteronism is a heterogeneous group of disorders comprising both sporadic and familial forms. Mutations in the KCNJ5 gene, which encodes the inward rectifier K(+) channel 4 (G protein-activated inward rectifier K(+) channel 4, Kir3.4), cause familial hyperaldosteronism type III (FH-III) and are involved in the pathogenesis of sporadic aldosterone-producing adenomas. OBJECTIVE: The objective of...

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PMID: 24037882
DOI: 10.1210/jc.2013-2428

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