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Article

Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis.

Genes - 25 Feb 2022

Rodrigues Bárbara, Gonçalves Ana, Sousa Vanessa, Maia Nuno, Marques Isabel, Vale-Fernandes Emídio, Santos Rosário, Nogueira António J A, Jorge Paula

Abstract excerpt

X-chromosome inactivation (XCI) is a developmental process to compensate the imbalance in the dosage of X-chromosomal genes in females. A skewing of the XCI pattern may suggest a carrier status for an X-linked disease or explain the presence of a severe phenotype. In these cases, it is important to determine the XCI pattern, conventionally using the gold standard Human Androgen-Receptor Assay (HUMARA), based on...

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PMID: 35327973
DOI: 10.3390/genes13030419
PMCID: PMC8951761

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