GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

N-methyl-D-aspartate receptors (NMDARs) play important roles in brain development and neurological disease. We report two individuals with similar dominant de novo GRIN1 mutations (c.1858 G>A and c.1858 G>C; both p.G620R). Both individuals presented at birth with developmental delay and hypoto...

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Detalhes bibliográficos
Publicado no:J Hum Genet
Main Authors: Chen, Wenjuan, Shieh, Christine, Swanger, Sharon A, Tankovic, Anel, Au, Margaret, McGuire, Marianne, Tagliati, Michele, Graham, John M, Madan-Khetarpal, Suneeta, Traynelis, Stephen F, Yuan, Hongjie, Pierson, Tyler Mark
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5637523/
https://ncbi.nlm.nih.gov/pubmed/28228639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2017.19
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