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A Novel Frame-Shift Mutation in SCNN1B Identified in a Chinese Family Characterized by Early-Onset Hypertension

BACKGROUND: Liddle syndrome is a form of monogenic hypertension caused by mutations in the three homologous subunits of the epithelial sodium channels (ENaCs), α, β, and γ. It is characterized by early-onset refractory hypertension, hypokalemia, low renin activity, and hypoaldosteronism. In this stu...

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Detalles Bibliográficos
Autores principales: Lu, Yi-Ting, Liu, Xin-Chang, Zhou, Ze-Ming, Zhang, Di, Sun, Lin, Zhang, Ying, Fan, Peng, Zhang, Lin, Liu, Ya-Xin, Luo, Fang, Zhou, Xian-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9239342/
https://www.ncbi.nlm.nih.gov/pubmed/35774371
http://dx.doi.org/10.3389/fcvm.2022.896564