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

10 avr. 2020Science Advances

DOI : 10.1126/sciadv.aay3511

Auteurs

Eléonore Toufektchan, Vincent Lejour, Romane Durand, Neelam Giri, Irena Draskovic, Boris Bardot, Pierre Laplante, Sara Jaber, Blanche P. Alter, José-Arturo Londono-Vallejo, Sharon A. Savage, Franck Toledo

Résumé

We demonstrate a direct link between germline p53 activation and telomere dysfunction.

Membres

BORIS BARDOT

Professeur Université Paris Saclay
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IRENA DRASKOVIC

Médecin Sorbonne Université