Open AccessClinical 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)
Author(s) -
Shen Hu,
Huikuan Yang,
Li C,
Qian Jiang,
Longwei Qiao,
Hu Chen,
Li T
Publication year - 2021
Publication title -
annals of clinical and medical case reports
Language(s) - English
Resource type - Journals
ISSN - 2639-8109
DOI - 10.47829/acmcr.2021.61101
Subject(s) - pseudohypoaldosteronism , epithelial sodium channel , splice , gene , beta (programming language) , mutation , protein subunit , genetics , splice site mutation , biology , cancer research , alternative splicing , chemistry , sodium , gene isoform , computer science , organic chemistry , programming language
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