Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita
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Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

Franklin Zhong, Sharon A. Savage, Marina Shkreli, Neelam Giri, Lea Jessop, Timothy Myers, Renee Chen, Blanche P. Alter, Steven E. Artandi;Franklin Zhong;Sharon A. Savage;Marina Shkreli;Neelam Giri;Lea Jessop;Timothy Myers;Renee Chen;Blanche P. Alter;Steven E. Artandi;
genes & development 2011 Vol. 25 pp. 11-
109
artandi2011genesdisruption

Abstract

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 ...

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DOI:
10.1101/gad.2006411
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC301293...

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