Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.

@article{Tamura1996LiddleDC,
  title={Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.},
  author={Hideto Tamura and Laurent Schild and Nobuyuki Enomoto and Noriaki Matsui and Fumiaki Marumo and Bernard C Rossier},
  journal={The Journal of clinical investigation},
  year={1996},
  volume={97 7},
  pages={1780-4}
}
Mutations in beta or gamma subunit of the epithelial sodium channel (ENaC) have been found to cause a hereditary form of human hypertension, Liddle syndrome. Most of the mutations reported are either nonsense mutations or frame shift mutations which would truncate the cytoplasmic carboxyl terminus of the beta or gamma subunits of the channel, suggesting that these domains are important for the normal regulation of this channel. We sequenced ENaC in a family with Liddle syndrome and found a… CONTINUE READING

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