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: Pretto, Dalyir I, Hunsaker, Michael R, Cunningham, Christopher L, Greco, Claudia M, Hagerman, Randi J, Noctor, Stephen C, Hall, Deborah A, Hagerman, Paul J, Tassone, Flora
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2013
Assuntos:
Case Report
Acceso en liña: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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