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The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)

Fragile X is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of FMR1 and loss of the encoded protein, FMRP (fragile X mental retardation protein). FMRP is an mRNA-binding protein that functions at many synapses to i...

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Bibliografiske detaljer
Udgivet i:Annu Rev Neurosci
Main Authors: Bhakar, Asha L., Dölen, Gül, Bear, Mark F.
Format: Artigo
Sprog:Inglês
Udgivet: 2012
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4327822/
https://ncbi.nlm.nih.gov/pubmed/22483044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1146/annurev-neuro-060909-153138
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