A Family with Liddle Syndrome Caused by a Novel Missense Mutation in the PY Motif of the Beta-Subunit of the Epithelial Sodium Channel - Gao, Linggen; Wang, Linping; Liu, Yaxin; Zhou, Xianliang; Hui, Rutai; Hu, Aihua (The Journal of pediatrics, 2013)
Keywords: Adolescent; adolescents; Adult; Aged; boys; Epithelial Sodium Channels; Epithelial Sodium Channels - genetics; Female; genes; genetics; heterozygosity; Humans; hypertension; hypokalemia; Liddle Syndrome; Liddle Syndrome - genetics; Male; Middle Aged; missense mutation; Mutation, Missense; patients; Pediatrics; Pedigree; risk; sequence analysis; sodium channels; therapeutics; Young Adult; PRA; ENaC; Epithelial sodium channel; Plasma renin activity