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
Titel:
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
Auteur:
Santoro, Massimo Perna, Alessia La Rosa, Piergiorgio Petrillo, Sara Piemonte, Fiorella Rossi, Salvatore Riso, Vittorio Nicoletti, Tommaso Filippo Modoni, Anna Pomponi, Maria Grazia Chiurazzi, Pietro Silvestri, Gabriella