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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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Detaylı Bibliyografya
Yayımlandı:J Biol Chem
Asıl Yazarlar: Hoffman, Hunter, Rice, Cory, Skordalakes, Emmanuel
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Biochemistry and Molecular Biology 2017
Konular:
Online Erişim: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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