A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia

BACKGROUND: Liddle syndrome (LS) is an autosomal dominant disorder caused by single-gene mutations of the epithelial sodium channel (ENaC). It is characterized by early-onset hypertension, spontaneous hypokalemia and low plasma renin and aldosterone concentrations. In this study, we reported an LS p...

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Detalles Bibliográficos
Autores principales: Fan, Peng, Zhao, Yu-Mo, Zhang, Di, Liao, Ying, Yang, Kun-Qi, Tian, Tao, Lou, Ying, Luo, Fang, Ma, Wen-Jun, Zhang, Hui-Min, Song, Lei, Cai, Jun, Liu, Ya-Xin, Zhou, Xian-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Original Contributions
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636789/
https://www.ncbi.nlm.nih.gov/pubmed/30977777
http://dx.doi.org/10.1093/ajh/hpz053

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