Evidence for Three Subgroups of Female FMR1 Premutation Carriers Defined by Distinct Neuropsychiatric Features: A Pilot Study

Over 200 Cytosine-guanine-guanine (CGG) trinucleotide repeats in the 5′ untranslated region of the Fragile X mental retardation 1 (FMR1) gene results in a “full mutation,” clinically Fragile X Syndrome (FXS), whereas 55 – 200 repeats result in a “premutation.” FMR1 premutation carriers (PMC) are at...

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Detalles Bibliográficos
Autores principales: Schmitt, Lauren M., Dominick, Kelli C., Liu, Rui, Pedapati, Ernest V., Ethridge, Lauren E., Smith, Elizabeth, Sweeney, John A., Erickson, Craig A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8763356/
https://www.ncbi.nlm.nih.gov/pubmed/35046780
http://dx.doi.org/10.3389/fnint.2021.797546

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