Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene

The X-linked FMR1 premutation (PM) is characterized by a 55–200 CGG triplet expansion in the 5′-untranslated region (UTR). Carriers of the PM were originally thought to be asymptomatic; however, they may present general neuropsychiatric manifestations including learning disabilities, depression and...

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Detalles Bibliográficos
Autores principales: Napoli, Eleonora, McLennan, Yingratana Amabel, Schneider, Andrea, Tassone, Flora, Hagerman, Randi J., Giulivi, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7642626/
https://www.ncbi.nlm.nih.gov/pubmed/33195422
http://dx.doi.org/10.3389/fmolb.2020.578640

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7642626/
https://www.ncbi.nlm.nih.gov/pubmed/33195422
http://dx.doi.org/10.3389/fmolb.2020.578640

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