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Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

Background: Nibrin, as part of the NBN/MRE11/RAD50 complex, is mutated in Nijmegen breakage syndrome (NBS), which leads to impaired DNA damage response and lymphoid malignancy. Results: Telomere length (TL) was markedly reduced in homozygous patients (and comparably so in all chromosomes) by ~40% (q...

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Detalles Bibliográficos
Autores principales: Habib, Raneem, Kim, Ryong, Neitzel, Heidemarie, Demuth, Ilja, Chrzanowska, Krystyna, Seemanova, Eva, Faber, Renaldo, Digweed, Martin, Voss, Reinhard, Jäger, Kathrin, Sperling, Karl, Walter, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7343506/
https://www.ncbi.nlm.nih.gov/pubmed/32564008
http://dx.doi.org/10.18632/aging.103453