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Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers

Fragile X syndrome (FXS) is the most common single gene cause of intellectual disability and it is characterized by a CGG expansion of more than 200 repeats in the FMR1 gene, leading to methylation of the promoter and gene silencing. The fragile X premutation, characterized by a 55 to 200 CGG repeat...

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Detalles Bibliográficos
Autores principales: Polussa, Jonathan, Schneider, Andrea, Hagerman, Randi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245015/
https://www.ncbi.nlm.nih.gov/pubmed/25436181
http://dx.doi.org/10.4172/2168-975X.1000119

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