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

TJ Vulliamy, A Walne, A Baskaradas, PJ Mason… - Blood Cells, Molecules …, 2005 - Elsevier
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 age-matched …