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

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 in the bon...

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Detalles Bibliográficos
Autores principales: Arthur, Jonathan W., Pickett, Hilda A., Barbaro, Pasquale M., Kilo, Tatjana, Vasireddy, Raja S., Beilharz, Traude H., Powell, David R., Hackett, Emma L., Bennetts, Bruce, Curtin, Julie A., Jones, Kristi, Christodoulou, John, Reddel, Roger R., Teo, Juliana, Bryan, Tracy M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Sickle Cell, Thrombosis, and Haematology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175968/
https://www.ncbi.nlm.nih.gov/pubmed/35845273
http://dx.doi.org/10.1002/jha2.165

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175968/
https://www.ncbi.nlm.nih.gov/pubmed/35845273
http://dx.doi.org/10.1002/jha2.165

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