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Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells

Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from a loss-of-function mutation by a CGG repeat expansion at the 5′ untranslated region of the X-linked fragile X mental retardation 1 (FMR1) gene. Expansion of the CGG repeats beyond 200 copies results i...

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Detalles Bibliográficos
Autores principales: Mor-Shaked, Hagar, Eiges, Rachel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083916/
https://www.ncbi.nlm.nih.gov/pubmed/27690107
http://dx.doi.org/10.3390/genes7100077