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Fragile X Premutation

Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, ‘premutation’ expansions (55 to 200 repeats) are now gaining increasing recognition as the basis for a spectrum of clinical invo...

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Detalles Bibliográficos
Autores principales:	Tassone, Flora, Hagerman, Paul J, Hagerman, Randi J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Editorial
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147873/ https://www.ncbi.nlm.nih.gov/pubmed/25170346 http://dx.doi.org/10.1186/1866-1955-6-22

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