Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome

@article{Hansson1995HypertensionCB,
  title={Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome},
  author={Joni H. Hansson and Carol Nelson-Williams and Hiroshi Suzuki and Laurent Schild and Richard A. Shimkets and Yin Lu and Cecilia M Canessa and Tadaaki Iwasaki and Bernard C Rossier and Richard P. Lifton},
  journal={Nature Genetics},
  year={1995},
  volume={11},
  pages={76-82}
}
Sensitivity of blood pressure to dietary salt is a common feature in subjects with hypertension. These features are exemplified by the mendelian disorder, Liddle's syndrome, previously shown to arise from constitutive activation of the renal epithelial sodium channel due to mutation in the β subunit of this channel. We now demonstrate that this disease can also result from a mutation truncating the carboxy terminus of the γ subunit of this channel; this truncated subunit also activates channel… CONTINUE READING
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