Article

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)

2021-01-09

Abstract excerpt

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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Literature Corpus work: 921943b5-2c18-5cfb-ab2f-ca08a80dc1e0
DOI: 10.22541/au.161017636.69998314/v1

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