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Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage

Li-Fraumeni Syndrome (LFS) results from heterozygous germline mutations of TP53, encoding a key transcriptional factor activated in response to DNA damage. We have recently shown, from a large LFS series, that dominant-negative missense mutations are the most clinically severe and, thanks to a new p...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Zerdoumi, Yasmine, Lanos, Raphaël, Raad, Sabine, Flaman, Jean-Michel, Bougeard, Gaëlle, Frebourg, Thierry, Tournier, Isabelle
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886078/
https://ncbi.nlm.nih.gov/pubmed/28369373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx106
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