FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution
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Friedreich ataxia (FRDA) is a recessive condition that is typically caused by inheriting an expanded GAA repeat (usually > 500 triplets) in the FXN gene from both parents who are heterozygous carriers of the expanded (E) allele. E alleles, which are evolutiona... ...
