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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3668897/
https://www.ncbi.nlm.nih.gov/pubmed/23692864
http://dx.doi.org/10.1186/2047-9158-2-10

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3668897/
https://www.ncbi.nlm.nih.gov/pubmed/23692864
http://dx.doi.org/10.1186/2047-9158-2-10

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