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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...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973239/ https://www.ncbi.nlm.nih.gov/pubmed/24651433 http://dx.doi.org/10.1038/cddis.2014.99 |