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Article

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?

International journal of molecular sciences - 12 May 2022

Tabolacci Elisabetta, Nobile Veronica, Pucci Cecilia, Chiurazzi Pietro

Abstract excerpt

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 triplets). Premutated females are at risk of transmitting a FM allele that, when methylated, epigenetically silences FMR1 and...

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Identifiers

PMID: 35628235
DOI: 10.3390/ijms23105425
PMCID: PMC9141726

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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