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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Publicat a:Sci Rep
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7367290/
https://ncbi.nlm.nih.gov/pubmed/32678152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-68465-6
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