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Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia

Ataxia telangiectasia (A-T) is a progressive childhood disorder characterized most notably by cerebellar degeneration and predisposition to cancer. A-T is caused by mutations in the kinase ATM, a master regulator of the DNA double-strand break response. In addition to DNA-damage signaling defects, A...

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Dades bibliogràfiques
Publicat a:DNA Repair (Amst)
Autors principals: Sharma, Nilesh K., Lebedeva, Maria, Thomas, Terace, Kovalenko, Olga A., Stumpf, Jeffrey D., Shadel, Gerald S., Santos, Janine H.
Format: Artigo
Idioma:Inglês
Publicat: 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6211587/
https://ncbi.nlm.nih.gov/pubmed/24342190
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.dnarep.2013.11.002
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