Genetic & Genomic MedicinemedRxivPreprint
Allele-specific expression of ATXN3 in blood samples of Machado-Joseph disease expansion carriers.
Ana Rosa Vieira Melo, Sandra Martins, Sara Pavão…·Mafalda Raposo
The paper investigates allele-specific expression of ATXN3 in blood samples of Machado-Joseph disease carriers, finding lineage-dependent allelic imbalance and its potential impact on age at onset.
DOI 10.64898/2026.01.26.26344891