Article
Many disease-associated variants of hTERT retain high telomerase enzymatic activity.
Nucleic acids research - 1 Oct 2013
Zaug Arthur J, Crary Sharon M, Jesse Fioravanti Matthew, Campbell Kristina, Cech Thomas R
Abstract excerpt
Mutations in the gene for telomerase reverse transcriptase (hTERT) are associated with diseases including dyskeratosis congenita, aplastic anemia, pulmonary fibrosis and cancer. Understanding the molecular basis of these telomerase-associated diseases requires dependable quantitative measurements of telomerase enzyme activity. Furthermore, recent findings that the human POT1-TPP1 chromosome end-binding protein...
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