Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

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The metabotropic glutamate receptor 1 (mGluR1) is abundantly expressed in the mammalian central nervous system, where it regulates intracellular calcium homeostasis in response to excitatory signaling. Here, we describe heterozygous dominant mutations in GRM1, which encodes mGluR1, that are associat...

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Detalles Bibliográficos
Autores principales: Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Lickiss, Jennifer, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591020/
https://www.ncbi.nlm.nih.gov/pubmed/28886343
http://dx.doi.org/10.1016/j.ajhg.2017.08.005
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