Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia

Friedreich ataxia (FRDA) is typically caused by homozygosity for an expanded GAA triplet-repeat in intron 1 of the FXN gene, which results in transcriptional deficiency via epigenetic silencing. Most patients are homozygous for alleles containing > 500 triplets, but a subset (~20%) have at least...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Rodden, Layne N, Chutake, Yogesh K, Gilliam, Kaitlyn, Lam, Christina, Soragni, Elisabetta, Hauser, Lauren, Gilliam, Matthew, Wiley, Graham, Anderson, Michael P, Gottesfeld, Joel M, Lynch, David R, Bidichandani, Sanjay I
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
Assuntos:
General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7861014/
https://ncbi.nlm.nih.gov/pubmed/33432325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa267
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