Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet expansion that inhibits expression of the FMR1 gene; the gene product, FMRP, regulates mRNA metabolism in the brain and...

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Bibliographic Details
Main Authors: Bagni, Claudia, Tassone, Flora, Neri, Giovanni, Hagerman, Randi
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 2012
Subjects:
Science in Medicine
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3533539/
https://ncbi.nlm.nih.gov/pubmed/23202739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI63141
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