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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Biol Chem
Prif Awduron: Hoffman, Hunter, Rice, Cory, Skordalakes, Emmanuel
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Biochemistry and Molecular Biology 2017
Pynciau:
Mynediad Ar-lein: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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