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

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...

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Detalles Bibliográficos
Autores principales: Rodrigues, Bárbara, Gonçalves, Ana, Sousa, Vanessa, Maia, Nuno, Marques, Isabel, Vale-Fernandes, Emídio, Santos, Rosário, Nogueira, António J. A., Jorge, Paula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8951761/
https://www.ncbi.nlm.nih.gov/pubmed/35327973
http://dx.doi.org/10.3390/genes13030419