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...

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Detalles Bibliográficos
Autores principales: Tabolacci, Elisabetta, Nobile, Veronica, Pucci, Cecilia, Chiurazzi, Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
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

Internet

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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