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...
Main Authors: | , , , , , , , , |
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Format: | Online |
Language: | English |
Published: |
BioMed Central
2013
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3668897/ |