A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.

Dominant missense mutations in the human glycine receptor (GlyR) alpha 1 subunit gene (GLRA1) give rise to hereditary hyperekplexia. These mutations impair agonist affinities and change conductance states of expressed mutant channels, resulting in a partial loss of function. In a recessive case of h...

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Autores principales: Brune, W., Weber, R. G., Saul, B., von Knebel Doeberitz, M., Grond-Ginsbach, C., Kellerman, K., Meinck, H. M., Becker, C. M.
Formato: Artigo
Lenguaje:Inglês
Publicado: 1996
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914607/
https://ncbi.nlm.nih.gov/pubmed/8651283
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