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Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?
A dynamic mutation in exon 1 of the FMR1 gene causes Fragile X-related Disorders (FXDs), due to the expansion of an unstable CGG repeat sequence. Based on the CGG sequence size, two types of FMR1 alleles are possible: “premutation” (PM, with 56-200 CGGs) and “full mutation” (FM, with >200 triplet...
Autores principales: | Tabolacci, Elisabetta, Nobile, Veronica, Pucci, Cecilia, Chiurazzi, Pietro |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141726/ https://www.ncbi.nlm.nih.gov/pubmed/35628235 http://dx.doi.org/10.3390/ijms23105425 |
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