Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

Dyskeratosis congenita (DC) is a genetic disorder of defective tissue maintenance and cancer predisposition caused by short telomeres and impaired stem cell function. Telomerase mutations are thought to precipitate DC by reducing either the catalytic activity or the overall levels of the telomerase...

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Autori principali: Zhong, Franklin, Savage, Sharon A., Shkreli, Marina, Giri, Neelam, Jessop, Lea, Myers, Timothy, Chen, Renee, Alter, Blanche P., Artandi, Steven E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2011
Soggetti:
Research Communication
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3012932/
https://ncbi.nlm.nih.gov/pubmed/21205863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.2006411
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