Clinical and genetic analysis of multi-system pseudohypoaldosteronism type 1 caused by a novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC)
Annals of Clinical and Medical Case Reports（2021）
Abstract
This article aims to provide a comprehensive review of the clinical features and genetics basis of multi-system pseudohypoaldosteronism type 1 caused by SCNN1B gene mutations.
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Key words
epithelial sodium channel,novel splice site mutation,beta subunit genetic,beta subunit,multi-system
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