Fragile X syndrome

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Nature Reviews Disease Primers | / 3卷 / 1期
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10.1038/nrdp.2017.66
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In most cases, fragile X syndrome is caused by a trinucleotide repeat expansion in FMR1, which results in loss of expression of its gene product, fragile X mental retardation 1 protein (FMRP). This PrimeView focuses on the consequences of FMRP loss, including deficits in synpatic plasticity.
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