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Although it has been reported that disease phenotype only presents in tissues such as muscle and brain at high mutant loads (typically above 90%) for most pathogenic mutations, the MTND5 gene mutation can result in diseased phenotype at low mutant loads even below 50% (Kirby et al., 2003)

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Wang, Y., Malabarba, M

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Liver iron sensing and body iron homeostasis

Our observations suggest that pre-emptive genotyping of CYP2C9 and GSTM1 may aid in selection of more effective prophylaxis to reduce HC development in pediatric patients undergoing allogeneic HSCT