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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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| Publicado no: | Neurol Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4817899/ https://ncbi.nlm.nih.gov/pubmed/27066582 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000045 |
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