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Structural and functional consequences of a disease mutation in the telomere protein TPP1

Telomerase replicates chromosome ends to facilitate continued cell division. Mutations that compromise telomerase function result in stem cell failure diseases, such as dyskeratosis congenita (DC). One such mutation (K170Δ), residing in the telomerase-recruitment factor TPP1, provides an excellent o...

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Bibliografske podrobnosti
izdano v:Proc Natl Acad Sci U S A
Main Authors: Bisht, Kamlesh, Smith, Eric M., Tesmer, Valerie M., Nandakumar, Jayakrishnan
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2016
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5135350/
https://ncbi.nlm.nih.gov/pubmed/27807141
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1605685113
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