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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2020
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| Materias: | |
| 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 |