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Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation
The fragile X mental retardation (FMR1) gene contains an expansion-prone CGG repeat within its 5′ UTR. Alleles with 55–200 repeats are known as premutation (PM) alleles and confer risk for one or more of the FMR1 premutation (PM) disorders that include Fragile X-associated Tremor/Ataxia Syndrome (FX...
Autores principales: | Hwang, Ye Hyun, Hayward, Bruce Eliot, Zafarullah, Marwa, Kumar, Jay, Durbin Johnson, Blythe, Holmans, Peter, Usdin, Karen, Tassone, Flora |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9213438/ https://www.ncbi.nlm.nih.gov/pubmed/35729184 http://dx.doi.org/10.1038/s41598-022-14183-0 |
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