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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Detalles Bibliográficos
Autores principales: Lozano, Reymundo, Hagerman, Randi J, Duyzend, Michael, Budimirovic, Dejan B, Eichler, Evan E, Tassone, Flora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147387/
https://www.ncbi.nlm.nih.gov/pubmed/25170347
http://dx.doi.org/10.1186/1866-1955-6-27

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147387/
https://www.ncbi.nlm.nih.gov/pubmed/25170347
http://dx.doi.org/10.1186/1866-1955-6-27

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