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Lezione Atassie - Università degli Studi di Perugia

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PatogenesiMalattie da TripletteEspansione patologica delletriplette nucleoti<strong>di</strong>cheCAG, CTG e delpentanucleotideATTCT.Le proteine co<strong>di</strong>ficate hannofunzione sconosciuta e sono<strong>di</strong>ssimili tra loroGenetics of SCA. CAG repeat expansions in the openrea<strong>di</strong>ng frame (ORF) are <strong>di</strong>stinguishable fromrepeat expansions in non-co<strong>di</strong>ng region of therespective genes.Lancet Neurol 2004

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