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

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 individ...

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Detalles Bibliográficos
Autores principales: Godler, David E., Inaba, Yoshimi, Bui, Minh Q., Francis, David, Skinner, Cindy, Schwartz, Charles E., Amor, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10342127/
https://www.ncbi.nlm.nih.gov/pubmed/37445892
http://dx.doi.org/10.3390/ijms241310712