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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Detalles Bibliográficos
Autores principales: Rajaratnam, Akash, Shergill, Jasdeep, Salcedo-Arellano, Maria, Saldarriaga, Wilmar, Duan, Xianlai, Hagerman, Randi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728189/
https://www.ncbi.nlm.nih.gov/pubmed/29259781
http://dx.doi.org/10.12688/f1000research.11885.1

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