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Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-35639-2
Abstract: Friedreich ataxia (FRDA) is a multisystem genetic disorder caused by GAA repeat expansion mutations within the FXN gene, resulting in heterochromatin formation and deficiency of frataxin protein. Elevated levels of the FXN antisense transcript (FAST-1)…
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Keywords:
fast frda;
expression fast;
expression;
fxn expression ... See more keywords
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Published in 2020 at "Human gene therapy"
DOI: 10.1089/hum.2020.053
Abstract: Friedreich's ataxia is the most common inherited form of ataxia in humans. It is caused by severe downregulation of Frataxin (FXN) expression instigated by hyperexpansion of the GAA repeats located in intron 1 of the…
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Keywords:
gene therapy;
expression;
fxn expression;
gene ... See more keywords