Single-Nucleotide Mutations in Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP
Fragile X syndrome is a monogenic disorder and a common cause of intellectual disability. Despite nearly 25 years of research on FMR1, the gene underlying the syndrome, very few pathological mutations other than the typical CGG-repeat expansion have been reported. This is in contrast to other X-link...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2015-01-01
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| Series: | Journal of Experimental Neuroscience |
| Online Access: | https://doi.org/10.4137/JEN.S25524 |