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Article

Defining the 3'Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome.

International journal of molecular sciences - 27 Jun 2023

Godler David E, Inaba Yoshimi, Bui Minh Q, Francis David, Skinner Cindy, Schwartz Charles E, Amor David J

Abstract excerpt

This study characterizes the DNA methylation patterns specific to fragile X syndrome (FXS) with a full mutation (FM > 200 CGGs), premutation (PM 55-199 CGGs), and X inactivation in blood and brain tissues at the 3' boundary of the FMR1 promoter. Blood was analyzed from 95 controls and 462 individuals (32% males) with FM and PM alleles. Brain tissues (62% males) were analyzed from 12 controls and 4 with FXS. There...

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Identifiers

PMID: 37445892
DOI: 10.3390/ijms241310712
PMCID: PMC10342127

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