Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance

Dyskeratosis congenita is a cancer-prone inherited bone marrow failure syndrome caused by telomere dysfunction. A mouse model recently suggested that p53 regulates telomere metabolism, but the clinical relevance of this finding remained uncertain. Here, a germline missense mutation of MDM4, a negati...

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Detalhes bibliográficos
Publicado no:Sci Adv
Main Authors: Toufektchan, Eléonore, Lejour, Vincent, Durand, Romane, Giri, Neelam, Draskovic, Irena, Bardot, Boris, Laplante, Pierre, Jaber, Sara, Alter, Blanche P., Londono-Vallejo, José-Arturo, Savage, Sharon A., Toledo, Franck
Formato: Artigo
Idioma:Inglês
Publicado em: American Association for the Advancement of Science 2020
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7148086/
https://ncbi.nlm.nih.gov/pubmed/32300648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/sciadv.aay3511
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