Genomic studies in fragile X premutation carriers

BACKGROUND: The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary o...

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Autors principals: Lozano, Reymundo, Hagerman, Randi J, Duyzend, Michael, Budimirovic, Dejan B, Eichler, Evan E, Tassone, Flora
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4147387/
https://ncbi.nlm.nih.gov/pubmed/25170347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1866-1955-6-27
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