New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
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J Biol Chem. 2013 Nov 22;288(47):33745-33759. doi: 10.1074/jbc.M113.509240. Epub 2013 Oct 9.
J Biol Chem. 2013.
PMID: 24108130
Free PMC article.
Clinical Trial.