Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

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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Vydáno v:Am J Hum Genet
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5591020/
https://ncbi.nlm.nih.gov/pubmed/28886343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.08.005
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