Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1

Telomerase is a ribonucleoprotein enzyme that is necessary for overcoming telomere shortening in human germ and stem cells. Mutations in telomerase or other telomere-maintenance proteins can lead to diseases characterized by depletion of hematopoietic stem cells and bone marrow failure (BMF). Telome...

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Detalhes bibliográficos
Main Authors: Guo, Yiran, Kartawinata, Melissa, Li, Jiankang, Pickett, Hilda A., Teo, Juliana, Kilo, Tatjana, Barbaro, Pasquale M., Keating, Brendan, Chen, Yulan, Tian, Lifeng, Al-Odaib, Ahmad, Reddel, Roger R., Christodoulou, John, Xu, Xun, Hakonarson, Hakon, Bryan, Tracy M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2014
Assuntos:
Plenary Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4215308/
https://ncbi.nlm.nih.gov/pubmed/25205116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-08-596445
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