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  • Transcriptomic profiling of... Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies
    Kalko, Susana Graciela; Paco, Sonia; Jou, Cristina ... BMC genomics, 02/2014, Letnik: 15, Številka: 1
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    Mutations in the gene encoding thymidine kinase 2 (TK2) result in the myopathic form of mitochondrial DNA depletion syndrome which is a mitochondrial encephalomyopathy presenting in children. In ...
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