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Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

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Description scientific article published on 07 July 2020
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author: Gabriella Silvestri  Sara Petrillo  Salvatore Rossi  Piergiorgio La Rosa  Massimo Santoro  Tommaso Nicoletti  Vittorio Riso  Maria Grazia Pomponi  Pietro Chiurazzi  Alessia Perna  Anna Modoni  Fiorella Piemonte 

Publication date July 7, 2020
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