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Intranuclear inclusions in a fragile X mosaic male
Lack of the fragile X mental retardation protein leads to Fragile X syndrome (FXS) while increased levels of FMR1 mRNA, as those observed in premutation carriers can lead to Fragile X- associated tremor ataxia syndrome (FXTAS). Until recently, FXTAS had been observed only in carriers of an FMR1 prem...
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| Main Authors: | , , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2013
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3668897/ https://ncbi.nlm.nih.gov/pubmed/23692864 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2047-9158-2-10 |
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