Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks

The study of rare human syndromes characterized by radiosensitivity has been instrumental in identifying novel proteins and pathways involved in DNA damage responses to ionizing radiation. In the present study, a mutation in mitochondrial poly-A-polymerase (MTPAP), not previously recognized for its...

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Detalhes bibliográficos
Main Authors: Martin, N T, Nakamura, K, Paila, U, Woo, J, Brown, C, Wright, J A, Teraoka, S N, Haghayegh, S, McCurdy, D, Schneider, M, Hu, H, Quinlan, A R, Gatti, R A, Concannon, P
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3973239/
https://ncbi.nlm.nih.gov/pubmed/24651433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/cddis.2014.99
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