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Fragile X: Leading the way for targeted treatments in autism

Two different mutations in the FMR1 gene may lead to autism. The full mutation, with >200 CGG repeats in the 5′ end of FMR1, leads to hypermethylation and transcriptional silencing of FMR1, resulting in absence or deficiency of the protein product, FMRP. Deficiency of FMRP in the brain causes fra...

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Bibliografische gegevens
Hoofdauteurs: Wang, Lulu W., Berry-Kravis, Elizabeth, Hagerman, Randi J.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer-Verlag 2010
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4084556/
https://ncbi.nlm.nih.gov/pubmed/20643379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nurt.2010.05.005
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