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Fragile X syndrome and fragile X-associated disorders
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intel...
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| Pubblicato in: | F1000Res |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
F1000 Research Limited
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5728189/ https://ncbi.nlm.nih.gov/pubmed/29259781 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.11885.1 |
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