A novel cause of DKC1‐related bone marrow failure: Partial deletion of the 3′ untranslated region

A novel cause of DKC1‐related bone marrow failure: Partial deletion of the 3′ untranslated region

Abstract Telomere biology disorders (TBDs), including dyskeratosis congenita (DC), are a group of rare inherited diseases characterized by very short telomeres. Mutations in the components of the enzyme telomerase can lead to insufficient telomere maintenance in hematopoietic stem cells, resulting i...

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Bibliographic Details
Main Authors: Jonathan W. Arthur, Hilda A. Pickett, Pasquale M. Barbaro, Tatjana Kilo, Raja S. Vasireddy, Traude H. Beilharz, David R. Powell, Emma L. Hackett, Bruce Bennetts, Julie A. Curtin, Kristi Jones, John Christodoulou, Roger R. Reddel, Juliana Teo, Tracy M. Bryan
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:eJHaem
Subjects:
DKC1
dyskeratosis congenita
polyadenylation
telomerase
telomeres
Online Access:https://doi.org/10.1002/jha2.165

Internet

https://doi.org/10.1002/jha2.165

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