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Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia.

Hereditary hyperekplexia is a dominant neurological disorder associated with point mutations at the channel-forming segment M2 of the glycine receptor alpha 1 subunit. Voltage-clamp recordings from the heterologously expressed mutants (alpha 1R271L or alpha 1R271Q) revealed 146- to 183-fold decrease...

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Autori principali: Langosch, D, Laube, B, Rundström, N, Schmieden, V, Bormann, J, Betz, H
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1994
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC395349/
https://ncbi.nlm.nih.gov/pubmed/7925268
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