Article
mRNA deadenylation and telomere disease.
The Journal of clinical investigation - 1 May 2015
Mason Philip J, Bessler Monica
Abstract excerpt
Dyskeratosis congenita (DC) is an inherited BM failure disorder that is associated with mutations in genes involved with telomere function and maintenance; however, the genetic cause of many instances of DC remains uncharacterized. In this issue of the JCI, Tummala and colleagues identify mutations in the gene encoding the poly(A)-specific ribonuclease (PARN) in individuals with a severe form of DC in three...
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