Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

Startle disease is a rare, potentially fatal neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden unexpected auditory, visual or tactile stimuli. Mutations in the GlyR α(1) subunit gene (GLRA1) are the major cause of this disorder, since remarkably f...

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Detalles Bibliográficos
Autores principales: James, Victoria M., Bode, Anna, Chung, Seo-Kyung, Gill, Jennifer L., Nielsen, Maartje, Cowan, Frances M., Vujic, Mihailo, Thomas, Rhys H., Rees, Mark I., Harvey, Kirsten, Keramidas, Angelo, Topf, Maya, Ginjaar, Ieke, Lynch, Joseph W., Harvey, Robert J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581774/
https://www.ncbi.nlm.nih.gov/pubmed/23238346
http://dx.doi.org/10.1016/j.nbd.2012.12.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581774/
https://www.ncbi.nlm.nih.gov/pubmed/23238346
http://dx.doi.org/10.1016/j.nbd.2012.12.001

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