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Structural Analysis Reveals the Deleterious Effects of Telomerase Mutations in Bone Marrow Failure Syndromes

Naturally occurring mutations in the ribonucleoprotein reverse transcriptase, telomerase, are associated with the bone marrow failure syndromes dyskeratosis congenita, aplastic anemia, and idiopathic pulmonary fibrosis. However, the mechanism by which these mutations impact telomerase function remai...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Hoffman, Hunter, Rice, Cory, Skordalakes, Emmanuel
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5377775/
https://ncbi.nlm.nih.gov/pubmed/28154186
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.771204
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