The molecular defect in the human disease dyskeratosis congenita is a reduction in function of telomerase. This discovery provides a direct test of the importance of this enzyme in ageing and cancer.
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Marciniak, R., Guarente, L. Testing telomerase. Nature 413, 371–373 (2001). https://doi.org/10.1038/35096663
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DOI: https://doi.org/10.1038/35096663
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