Article
New Animal Models for Understanding FMRP Functions and FXS Pathology.
Cells - 12 May 2022
Curnow Eliza, Wang Yuan
Abstract excerpt
Fragile X encompasses a range of genetic conditions, all of which result as a function of changes within the FMR1 gene and abnormal production and/or expression of the FMR1 gene products. Individuals with Fragile X syndrome (FXS), the most common heritable form of intellectual disability, have a full-mutation sequence (>200 CGG repeats) which brings about transcriptional silencing of FMR1 and loss of FMR protein...
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