Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

@article{Vulliamy2005MutationsIT,
  title={Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.},
  author={Tom J. Vulliamy and Amanda J. Walne and Aroon Baskaradas and P. J. Mason and Anna Marrone and Inderjeet S Dokal},
  journal={Blood cells, molecules & diseases},
  year={2005},
  volume={34 3},
  pages={257-63}
}
Human telomerase has two core components, the RNA molecule (TERC) that provides the template for telomere repeat elongation and a reverse transcriptase (TERT) that is responsible for the addition of telomere repeats at the ends of each chromosome. Mutations in TERC have been found in the autosomal-dominant form of the inherited bone marrow failure syndrome dyskeratosis congenita and in a subset of patients with aplastic anemia and myelodysplasia. These patients have short telomeres compared to… CONTINUE READING
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