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X-inactivation in the clinical phenotype of fragile X premutation carrier sisters

OBJECTIVE: The purpose of this study is to describe a case series of 4 sisters with discordant clinical phenotypes associated with fragile X–associated tremor/ataxia syndrome (FXTAS) that may be explained by varying CGG repeat sizes and activation ratios (ARs) (the ratio of cells carrying the normal...

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Detalles Bibliográficos
Autores principales:	Hall, Deborah A., Robertson-Dick, Erin E., O'Keefe, Joan A., Hadd, Andrew G., Zhou, Lili, Berry-Kravis, Elizabeth
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817899/ https://www.ncbi.nlm.nih.gov/pubmed/27066582 http://dx.doi.org/10.1212/NXG.0000000000000045

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