Article
Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.
The Journal of physiology - 15 Feb 1998
Lewis T M, Sivilotti L G, Colquhoun D, Gardiner R M, Schoepfer R, Rees M
Abstract excerpt
1. Inherited defects in human glycine receptors give rise to hyperekplexia (startle disease). We expressed human glycine receptors in Xenopus oocytes, in order to examine the pharmacological and single-channel properties of receptors that contain a mutation, alpha1(K276E), associated with an atypical form of hyperekplexia. 2. Equilibrium concentration-response curves showed that recombinant human...
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