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Keywords: Friedreich's ataxia
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Emerg Top Life Sci (2023) 7 (3): 313–323.
Published: 12 September 2023
...Maria M. Krasilnikova; Casey L. Humphries; Emily M. Shinsky Friedreich ataxia (FRDA) is an inherited disease that is typically caused by GAA repeat expansion within the first intron of the FXN gene coding for frataxin. This results in the frataxin deficiency that affects mostly muscle, nervous...