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XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature

Recent studies demonstrated a dramatically increased risk of leukemia in patients with a rare genetic disorder, Xeroderma Pigmentosum group C (XP-C), characterized by constitutive deficiency of global genome nucleotide excision repair (GG-NER). The genetic mechanisms of non-skin cancers in XP-C pati...

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Detalles Bibliográficos
Autores principales: Yurchenko, Andrey A., Padioleau, Ismael, Matkarimov, Bakhyt T., Soulier, Jean, Sarasin, Alain, Nikolaev, Sergey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672101/
https://www.ncbi.nlm.nih.gov/pubmed/33203900
http://dx.doi.org/10.1038/s41467-020-19633-9