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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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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Bisht, Kamlesh, Smith, Eric M., Tesmer, Valerie M., Nandakumar, Jayakrishnan
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2016
Assuntos:
Acesso em linha: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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