Article

Gene regulation and epigenotype in Friedreich's ataxia

2008-01-01

Abstract excerpt

Friedreich’s ataxia (FRDA) is known to be provoked by an abnormal GAA-repeat expansion located in the first intron of the FXN gene. As a result of the GAA expansion, patients exhibit low levels of FXN mRNA, leading to FRDA. Here, via chromatin immunoprecipitation (ChIP), the presence of a RNA pol II transcriptional pausing site at exon 1 of the FXN gene was demonstrated. At this site, FRDA EBVcell lines exhibited...

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Literature Corpus work: 2854d0be-8831-52de-b59f-515dcd069b26
DOI: 10.25560/1305

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