2005•Blood Cells Molecules and DiseasesRequires access

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

Tom Vulliamy, Amanda J. Walne, Aroon Baskaradas, Philip J. Mason, Anna Marrone, Inderjeet Dokal

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Key concepts: Dyskeratosis congenita, Bone marrow failure, Aplastic anemia, Telomerase RNA component, Telomerase, Telomere, Missense mutation, Telomerase reverse transcriptase