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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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書目詳細資料
發表在:Proc Natl Acad Sci U S A
Main Authors: Bisht, Kamlesh, Smith, Eric M., Tesmer, Valerie M., Nandakumar, Jayakrishnan
格式: Artigo
語言:Inglês
出版: National Academy of Sciences 2016
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在線閱讀: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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