FMR1 mRNA from full mutation alleles is associated with ABC-C(FX) scores in males with fragile X syndrome

Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe autism features in FXS males. This study compared scores on the...

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Detalles Bibliográficos
Autores principales: Baker, Emma K., Arpone, Marta, Kraan, Claudine, Bui, Minh, Rogers, Carolyn, Field, Michael, Bretherton, Lesley, Ling, Ling, Ure, Alexandra, Cohen, Jonathan, Hunter, Matthew F., Santa María, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica, Amor, David J., Godler, David E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7367290/
https://www.ncbi.nlm.nih.gov/pubmed/32678152
http://dx.doi.org/10.1038/s41598-020-68465-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7367290/
https://www.ncbi.nlm.nih.gov/pubmed/32678152
http://dx.doi.org/10.1038/s41598-020-68465-6

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